Publications by authors named "Yiping Shen"

210 Publications

Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study.

Brain Dev 2021 Jun 10. Epub 2021 Jun 10.

Department of Paediatrics, Peking University People's Hospital, Beijing 100044, China.

Objective: To evaluate the clinical utility of next-generation sequencing (NGS) in unexplained pediatric epilepsy, and to identify the potential predictors associated with Mendelian genetic causes.

Methods: Two hundred and ten children with unexplained epilepsy, who underwent NGS test were included. We analyzed the demographic, clinical and genetic characteristics, and executed a Logistic regression analysis for identifying predictors for Mendelian genetic causes. Patients were classified as either with isolated epilepsy or syndromic epilepsy with concurrent neurodevelopmental phenotypes.

Results: The overall diagnostic yield was 29.0% (61/210). A total of 68 variants spanning 39 genes were identified in 58 patients (27.6%, 58/210) from exome sequencing based testing. Of the 68 variants, 33 were novel ones. Besides, STAR and CNTN2 were identified to be a candidate gene for epilepsy. Patients with syndromic epilepsy had a much higher diagnostic yield than that of isolated epilepsy (53/135, 39.3% vs. 8/75, 10.7%, p = 0.000). The odds ratio of detecting genetic cause was 3.939 (95% CI 1.369-11.332) for syndromic epilepsy without epileptic encephalopathy (EE), 5.814 (95% CI 2.208-15.306) for EE, 2.958 (95% CI 1.093-8.000) for patients with seizure onset <12 months, and 2.932 (95%CI 1.414-6.080) for female. Of the 210 patients, 78.4% of patients (145/185) had at least a 50% reduction in seizure frequency and 58.9% (109/185) reached seizure freedom. There was no difference between seizure prognosis and diagnostic outcomes.

Significance: NGS is effective for Mendelian genetic etiological diagnosis for unexplained pediatric epilepsy. Female patients with syndromic epilepsy with onset within the first year of life are most likely to yield a positive test result.
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http://dx.doi.org/10.1016/j.braindev.2021.05.014DOI Listing
June 2021

The portrayal of people with dwarfism in Chinese art.

Am J Med Genet C Semin Med Genet 2021 06 13;187(2):192-198. Epub 2021 May 13.

School of Obstetrics and Gynecology, Women's Hospital, Zhejiang University School of Medicine, Zhejiang, Hangzhou, People's Republic of China.

Dwarfism has been depicted in various Chinese art forms including literature, sculpture, and painting. This article examines several representative Chinese works of art from different ages of Chinese history, in order to glimpse the living situations of people with dwarfism, their professions and social status, as well as the social attitude toward them in China. We highlight " (Shan Hai Jing, translated as the Classic of Mountains and Seas), a remarkable collection of myths and illustrations which documented the existence of dwarf communities where the residents were capable of producing high-quality grains. Representations from sculptures and paintings frequently captured the images of individuals with dwarfism in royal courts, which showed their remarkable performance skills and social ability. There are also works of art associating dwarfism with rituals. In addition to portraying ordinary individuals with humble social status, there was one particular individual with dwarfism named Yan Zi () who was highly regarded as a figure of wisdom. Throughout the long Chinese history, dwarfism had been portrayed in art as either positive, neutral or derogatory, which reflected the fact that people with dwarfism, while short in stature, are usually intellectually normal, generally skillful, and often talented, in short, like the general population.
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http://dx.doi.org/10.1002/ajmg.c.31906DOI Listing
June 2021

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Mol Genet Genomic Med 2021 May 12:e1683. Epub 2021 May 12.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Background: Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth.

Methods: An affected dizygotic twin pair from a non-consanguineous Chinese family presented with severe asphyxia, lethargy and no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar and sole creases, acromelia, bilateral clubfoot, appendicular hypertonia and cryptorchidism. Both infants died in the first week of life. Whole-exome sequencing was used to identify the causative gene.

Results: Whole-exome sequencing identified a recurrent missense variant c.1516A>C and a novel splice-acceptor variant c.1153-1G>C in KLHL40 gene in both siblings. We estimated the disease incidence in Southern Chinese population to be 2.47/100,000 based on the cumulative allele frequency of pathogenic and likely pathogenic variants in our internal database.

Conclusion: Our study expanded the mutation spectrum of KLHL40 and the condition could have been underdiagnosed before. We identified a recurrent missense variant c.1516A>C and provided evidence further supporting the founder effect of this variant in Southern Chinese population. Given the severity of the condition and the relative high incidence, this not-so-rare disorder should be included in expanded carrier screening panel for Chinese population.
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http://dx.doi.org/10.1002/mgg3.1683DOI Listing
May 2021

[Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):419-424

Prenatal Diagnosis Center, Qingyuan People's Hospital, the Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan, Guangdong 511500, China.

Chromosome microarray analysis (CMA) has become the first-tier testing for chromosomal abnormalities and copy number variations (CNV). This review described the clinical validation of CMA, the development and updating of technical standards and guidelines and their diagnostic impacts. The main focuses were on the development and updating of expert consensus, practice resources, and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature. Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities, multiple congenital anomalies and autism. The standards and guidelines have been applied to pre- and postnatal testing for constitutional CNV and tumor testing for acquired CNV. CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies. Guiding and governing CMA through expert consensus, practice resource, standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families, reliable diagnosis on related genetic diseases for clinical database and basic research, and references for clinical translation of new technologies.
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http://dx.doi.org/10.3760/cma.j.cn511374-20200924-00690DOI Listing
May 2021

The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling.

J Matern Fetal Neonatal Med 2021 May 2:1-7. Epub 2021 May 2.

Genetic and Metabolic Central Laboratory, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning, PR China.

Objective: To evaluate the clinical application of expanded noninvasive prenatal screening (eNIPS) for genome-wide large copy number variation (CNV), i.e. chromosomal deletion/duplication >5 Mb, and aneuploidy; also to provide practical information for counseling eNIPS positive cases.

Method: We recruited 34,620 women with singleton pregnancy for genome-wide cell-free plasma DNA sequencing. Screening positive cases were verified by karyotyping and/or SNP array.

Result: A total of 461 (1.33%) positive cases were identified through our cfDNA screening including 209 cases of common trisomies (0.60%), 124 cases of sex chromosomal abnormalities (SCA) (0.36%), 71 cases of other autosomal anueploidies (OAA) (0.21%), and 57 CNVs larger than 5 Mb (0.16%). The predictive positive values (PPV) were 70.06% in general for common trisomies with as high as 91.67% for Trisomy21 (T21), 40.22% in general for SCAs with as high as 100% for Jacob Syndrome (XYY). The PPV for OAAs was 5.45%, and T7/T8/T16/T22 were the most frequent OAAs ( = 15, 9, 9, 8, respectively). The PPV for CNVs larger than 5 Mb was 51.22% ( = 57) with the CNV mostly detected on Chr5/Chr4/Chr2/Chr7 ( = 10, 8, 5, 5, respectively).

Conclusion: The expanded NIPS had shown promising PPVs for CNVs (large than 5 Mb), SCAs and common trisomies, yet this method required higher efficacy in screening for OAAs. The post-test genetic counseling for expanded NIPS should be tailored to the types of positive cases and also address the origin of abnormal signals (fetal vs. maternal).
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http://dx.doi.org/10.1080/14767058.2021.1907333DOI Listing
May 2021

Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Infect Drug Resist 2021 6;14:1311-1317. Epub 2021 Apr 6.

Department of Hematology, First Affiliated Hospital of Zhejiang Chinese Medical University, Zhejiang Provincial Hospital of TCM, Hangzhou, Zhejiang Province, People's Republic of China.

Monocytopenia and mycobacterial infection (MonoMAC) syndrome is a rare disease. Herein, we reported a 65-year-old Asian woman, previously diagnosed with myelodysplastic syndrome (MDS), suffering from recurrent pneumonia, intermittent fever, fatigue, and chest tightness lasting for five months. She was ultimately diagnosed with MonoMAC syndrome with () infection and GATA2 mutation through metagenomic generation sequencing (mNGS) of peripheral blood specimen, for which she was given anti-NTM therapy. Her situation significantly improved within 2 weeks of therapy. We discussed the clinical features, genetic characteristic, and prognosis of this disorder, aiming to further elucidate this rare syndrome. For MDS/AML patient with recurrent mixed infection and pancytopenia (especially with monocyte absence), MonoMAC syndrome should be highly suspected, and germline mutation and pathogen sequencing should be performed.
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http://dx.doi.org/10.2147/IDR.S305825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040071PMC
April 2021

Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.

Clin Chim Acta 2021 Aug 5;519:163-171. Epub 2021 Apr 5.

Department of Cardiology, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, Jiangsu, China. Electronic address:

Background And Aims: Biallelic missense variants in PPA2 gene cause infantile sudden cardiac failure (SCFI; OMIM #617222) characterized by sudden cardiac failure, sudden cardiac death in infants. Here, we present an unusual survivor with one inherited plus one de novo variant in PPA2. Since next-generation sequencing (NGS) fails to resolve variant phasing, which require long-read sequencing to clarify the diagnosis.

Materials And Methods: Whole exome and Sanger sequencing were initially performed to identify the causative variants. PCR-based short tandem repeats (STRs) analysis and long-read single molecule real-time (SMRT) sequencing were further implemented for paternity testing and variant phasing. Pathogenicity evaluation of the biallelic variants in PPA2 was conducted according to the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines based on VarSome.

Results: Whole exome and Sanger sequencing revealed two variants in PPA2, with one novel nonsense variant (c.524C > G; p.Ser175*) inherited from the mother and one de novo missense variant (c.379C > T; p.Arg127Cys). PCR-based STRs analysis verified the paternity. And long-read SMRT sequencing phased the two variants in trans and identified the paternal origin of the de novo variant. The genetic diagnosis clarified the genetic etiology of the proband and assisted in patient management and counseling.

Conclusion: We identified a rare combination of one inherited plus one de novo variant of PPA2 in a patient with autosomal recessive SCFI, which expanded the mutation spectrum of PPA2 and demonstrated the power of target long-read sequencing to make up the diagnostic gap of prevailing NGS.
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http://dx.doi.org/10.1016/j.cca.2021.03.029DOI Listing
August 2021

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.

BMC Med Genomics 2021 04 1;14(1):95. Epub 2021 Apr 1.

Department of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.

Background: ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far.

Case Presentation: We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both patients presented with episodes of alternating hemiplegia, seizures and mild developmental delay. Brain magnetic resonance imaging revealed abnormal signals in both patients.

Conclusions: The new genetic evidence we reported here strengthened the gene-disease relationship, and the gene curation level between ATP1A2 and AHC became "Moderate" following the ClinGen Standard Operation Procedure. Consequently, the two variants can be reclassified as likely pathogenic.
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http://dx.doi.org/10.1186/s12920-021-00947-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017680PMC
April 2021

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Mol Genet Genomic Med 2021 Apr 16;9(4):e1624. Epub 2021 Mar 16.

Guangxi Health Commission Key Laboratory of Precise Diagnosis and Treatment of Genetic Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Background: Congenital hydrocephalus-3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe hydrocephalus and cerebellar abnormalities, the onset of the disease occurs in utero even resulting in fetal death. A very limited spectrum of WDR81 pathogenic variants had been reported in three unrelated families with HYC3. This study aims at presenting novel compound heterozygous frameshift variants in WDR81 in a Chinese fetus.

Methods: Whole-exome sequencing (WES) was performed for a fetus with multiple congenital anomalies including sever hydrocephalus, cleft lip and palate, hydrops fetalis, hepatomegaly, and cerebellar hypoplasia. Sanger sequencing was performed to confirm the origin of the variants subsequently. Variants classification was based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines.

Results: Two novel heterozygous variants c.146_147insG (p.Thr52fs) and c.673delC (p.Leu225fs) in WDR81 were identified. Sanger sequencing revealed that the c.146_147insG mutation was maternal origin and the c.673delC mutation was paternal origin. Both variants were pathogenic according to the ACMG/AMP guidelines.

Conclusion: The present study expands the mutation spectrum of WDR81 and help further define the genotype-phenotype correlations of HYC3. WDR81-related HYC3 were highly clinical heterogeneity. We suggested that fetal hydrocephalus with extracerebral manifestations may be suggestive of WDR81 deficiency and WES is effective for achieving a conclusive diagnosis for disorder.
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http://dx.doi.org/10.1002/mgg3.1624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123740PMC
April 2021

A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.

J Clin Endocrinol Metab 2021 Jun;106(7):e2711-e2719

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Context: Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated.

Objective: We sought to determine the prevalence of ACAN pathogenic variants among Chinese short stature children and characterize the phenotypic spectrum and their responses to growth hormone therapies.

Patients And Methods: Over 1000 unrelated short stature patients ascertained across China were genetically evaluated by next-generation sequencing-based test.

Result: We identified 10 novel likely pathogenic variants and 2 recurrent pathogenic variants in this cohort. None of ACAN mutation carriers exhibited significant dysmorphic features or skeletal abnormities. The prevalence of ACAN defect is estimated to be 1.2% in the whole cohort; it increased to 14.3% among those with advanced bone age and to 35.7% among those with both advanced bone age and family history of short stature. Nonetheless, 5 of 11 ACAN mutation carries had no advanced bone age. Two individuals received growth hormone therapy with variable levels of height SD score improvement.

Conclusion: Our data suggest that ACAN mutation is 1 of the common causes of Chinese pediatric short stature. Although it has a higher detection rate among short stature patients with advanced bone age and family history, part of affected probands presented with delayed bone age in Chinese short stature population. The growth hormone treatment was moderately effective for both individuals.
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http://dx.doi.org/10.1210/clinem/dgab088DOI Listing
June 2021

CNV profiles of Chinese pediatric patients with developmental disorders.

Genet Med 2021 04 5;23(4):669-678. Epub 2021 Jan 5.

Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproduction, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Purpose: To examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders.

Methods: De-identified chromosomal microarray (CMA) data from 10,026 pediatric patients with developmental disorders were collected for re-evaluating the pathogenic CNV (pCNV) yields of different medical conditions and for comparing the frequency and phenotypic variability of genomic disorders between the Chinese and Western patient populations.

Results: The overall yield of pCNVs in the Chinese pediatric patient cohort was 21.37%, with variable yields for different disorders. Yields of pCNVs were positively associated with phenotypic complexity and intellectual disability/developmental delay (ID/DD) comorbidity for most disorders. The genomic burden and pCNV yield in neurodevelopmental disorders supported a female protective effect. However, the stratification analysis revealed that it was seen only in nonsyndromic ID/DD, not in nonsyndromic autism spectrum disorders or seizure. Furthermore, 15 known genomic disorders showed significantly different frequencies in Chinese and Western patient cohorts, and profiles of referred clinical features for 15 known genomic disorders were also significantly different in the two cohorts.

Conclusion: We defined the pCNV yields and profiles of the Chinese pediatric patients with different medical conditions and uncovered differences in the frequency and phenotypic diversity of genomic disorders between Chinese and Western patients.
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http://dx.doi.org/10.1038/s41436-020-01048-yDOI Listing
April 2021

Detection of phospholipase A in serum based on LRET mechanism between upconversion nanoparticles and SYBR green I.

Anal Chim Acta 2021 Jan 24;1143:37-44. Epub 2020 Nov 24.

The School of Pharmacy, Fujian Medical University, Fuzhou, Fujian, 350108, PR China; Key Laboratory of Drug Target Discovery and Structural and Functional Research, Fuzhou, Fujian, 350108, PR China. Electronic address:

Phospholipase A (PLA) may be a vital biomarker for the prediction and diagnosis of some diseases. Consequently, it is of great significance to quantitatively detect PLA in biologic samples. Herein, on the basis of the principle of luminescence resonance energy transfer (LRET) between upconversion nanoparticles (UCNPs) and SYBR Green I (SG), we proposed a technology for the highly sensitive detection of PLA amount. Therein, as an energy receptor, SG will be quantitatively loaded into liposomes firstly. Then, due to the hydrolysis of liposomes under the catalysis of PLA, SG will be released and inserted into the double-stranded DNA (dsDNA) on the surface of UCNPs, which triggers the LRET because of the shortening of effective spatial distance between UCNPs and SG. Under exciting of NIR light, UCNPs emit luminescence at 476 nm, which makes SG emit fluorescence at 522 nm through LRET. Under optimal conditions, the emission intensity ratio (I/I) increased linearly with the PLA amount in the range of 20 U/L to 400 U/L, and the limit of detection (LOD) reached 15 U/L. Here, after comparing with the clinical standard method, it is found that the biosensor is expected to provide a convenient and sensitive assay for the detection of PLA in actual serum samples. Furthermore, such biosensor can also be used to test the inhibitor of PLA.
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http://dx.doi.org/10.1016/j.aca.2020.11.025DOI Listing
January 2021

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.

BMC Med Genomics 2020 12 4;13(1):181. Epub 2020 Dec 4.

Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530023, Guangxi, China.

Background: Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental delay, intellectual disability and seizure disorders. Recently, NSD2 gene located within the 165 kb Wolf-Hirschhorn syndrome critical region was identified as the key causal gene responsible for most if not all phenotypes of Wolf-Hirschhorn syndrome. So far, eight NSD2 loss of function variants have been reported in patients from different parts of the world, all were de novo variants.

Methods: In our study, we performed whole exome sequencing for two patients from one family. We also reviewed more NSD2 mutation cases in pervious literature.

Results: A novel loss of function NSD2 variant, c.1577dupG (p.Asn527Lysfs*14), was identified in a Chinese family in the proband and her father both affected with intellectual disability. After reviewing more NSD2 mutation cases in pervious literature, we found none of them had facial features that can be recognized as Wolf-Hirschhorn syndrome. In addition, we have given our proband growth hormone and followed up with this family for 7.5 years.

Conclusions: Here we reported the first familial NSD2 variant and the long-term effect of growth hormone therapy for patients. Our results suggested NSD2 mutation might cause a distinct intellectual disability and short stature syndrome.
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http://dx.doi.org/10.1186/s12920-020-00831-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716467PMC
December 2020

An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.

Front Genet 2020 2;11:582637. Epub 2020 Nov 2.

National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.

Exome sequencing has become an effective diagnostic method for disorders. But the quality of services differs widely across laboratories in China, particularly in variant classification, even with the adoption of the ACMG guidelines. As an effort of quality control and improvement for better clinical utilization of exome sequencing, we assessed the exome data analysis and clinical reporting among Chinese laboratories. Five raw datasets of real clinical samples with associated phenotypes were sent to 53 laboratories. The participants independently performed secondary analysis, variant classification, and reporting. The first round of results was used for identifying problems associated with these aspects. Subsequently, we implemented several corrective actions and a training program was designed based on the identified issues. A second round of five datasets were sent to the same participants. We compared the performances in variant interpretation and reporting. A total of 85.7% (42/49) of participants correctly identified all the variants related with phenotype. Many lines of evidence using the ACMG guidelines were incorrectly utilized, which resulted in a large inter-laboratory discrepancy. After training, the evidence usage problems significantly improved, leading to a more consistent outcome. Participants improved their exome data analysis and clinical reporting capability. Targeted training and a deeper understanding of the ACMG guidelines helped to improve the clinical exome sequencing service in terms of consistency and accuracy in variant classification in China.
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http://dx.doi.org/10.3389/fgene.2020.582637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667017PMC
November 2020

Severe Systemic Rash in the Treatment of Hairy Cell Leukemia with Cladribine: Case Report and Literature Review.

Int J Gen Med 2020 19;13:1187-1192. Epub 2020 Nov 19.

First Clinical College of Zhejiang Chinese Medical University, Hangzhou, Zhejiang 310053, People's Republic of China.

A 49-year-old male patient who had been diagnosed with variable hairy cell leukemia (HCL-V) was treated with interferon for half a year but exert no obvious effect. After two courses of chemotherapy with cladribine, he achieved remission, and splenomegaly significantly improved (the length in craniocaudal dimension decreased from 15.8cm to 11.8cm). Four years later, the patient got disease relapse and was recommended for another cycle of cladribine (6mg for 7 days). On the last day of cladribine, the patient developed fever with needle-like red rashes on the face, limbs, and trunk. At the very beginning, the rash was lighter in color, sparsely distributed, and without obvious itching. Three days later, the rash gradually darkened, expanded and merged, with itching. With the application of high dose gamma globulin and corticosteroids (prednisolone combined with dexamethasone), the rash finally faded, and the patient was discharged. Rash caused by cladribine is not uncommon, such serious and widespread drug-induced rash is rare, and there are few reports. This article reviewed relevant studies and treatments.
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http://dx.doi.org/10.2147/IJGM.S281476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682778PMC
November 2020

Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.

Mol Genet Genomic Med 2020 12 18;8(12):e1515. Epub 2020 Nov 18.

Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.

Background: Liver failure caused by TRMU is a rare hereditary disorder and clinically manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia. Limited spectrum of TRMU pathogenic variants has been reported.

Methods: Whole-exome sequencing was employed for the diagnosis of a 5-day-old female who suffered from severe neonatal hyperlactatemia and hypoglycemia since birth. Sanger sequencing was performed to confirm the origin of the variants subsequently. Variants classification was followed to ACMG guideline.

Results: A compound heterozygosity of a frameshiftc.34_35dupTC (p.Gly13fs) and a missense c.244T>G (p.Phe82Val) in TRMU was detected, both variants are novel and pathogenic. Analysis of clinical and genetic information including patients reported previously indicated that there is no significant correlation between the genotype and the phenotype of TRMU-caused liver failure.

Conclusion: To the best of our knowledge, this is the first case report of TRMU-caused liver failure in China. Whole-exome sequencing is effective for conclusive diagnosis of this disorder and beneficial for its clinical management.
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http://dx.doi.org/10.1002/mgg3.1515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767550PMC
December 2020

[Genetic analysis of three children with disorders of sex development caused by structural rearrangements of Y chromosome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Nov;37(11):1226-1232

Department of Clinical Laboratory, Wujiang District Children's Hospital, Suzhou, Jiangsu 215234, China.

Objective: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements.

Methods: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).

Results: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.

Conclusion: Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.
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http://dx.doi.org/10.3760/cma.j.cn511374-20190725-00373DOI Listing
November 2020

Constant-wavelength synchronous fluorescence spectrometry for simultaneous and rapid determination of five polycyclic aromatic hydrocarbon residues in dairy products.

Luminescence 2021 Mar 24;36(2):353-359. Epub 2020 Oct 24.

College of Chemical and Biological Engineering, Shandong University of Science and Technology, Qingdao, Shandong, China.

A new method for simultaneously determining five polycyclic aromatic hydrocarbons (PAHs) (fluorene, benzofluorene, pyrene, benzo(a)pyrene, and perylene) in dairy products using constant-wavelength synchronous fluorescence spectrometry (CWSFS) was established in this study. Acetonitrile was chosen as the extraction solvent to extract the five PAHs from the dairy products, and an ultrasound extraction method was adopted. The supernatants were filtered using a 0.45-μm microporous filter membrane and concentrated to dryness with a nitrogen dryer. The extracts were then re-dissolved in cyclohexane for analysis. To overcome interference from the background matrix and between PAHs, the difference in wavelength (Δλ) at 40 nm was chosen for CWSFS scanning. With only one single scan, the five PAHs in dairy products could be distinguished and determined using the standard curve method without the need for previous chromatographic separation of the analyte solution. Detection limits of fluorene, benzofluorene, pyrene, benzo(a)pyrene, and perylene were 0.0051 μg·L , 0.016 μg·L , 0.021 μg·L , 0.0056 μg·L , and 0.0062 μg·L , respectively. Recoveries were between 85.60% and 98.42%. These five PAHs in dairy products were determined with good results and therefore expected to be a routine detection method for PAHs in dairy products.
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http://dx.doi.org/10.1002/bio.3950DOI Listing
March 2021

Wrinkle-Enabled Highly Stretchable Strain Sensors for Wide-Range Health Monitoring with a Big Data Cloud Platform.

ACS Appl Mater Interfaces 2020 Sep 11;12(38):43009-43017. Epub 2020 Sep 11.

State Key Laboratory of Advanced Design and Manufacturing for Vehicle Body, College of Mechanical and Vehicle Engineering, Hunan University, Changsha 410082, China.

Flexible and stretchable strain sensors are vital for emerging fields of wearable and personal electronics, but it is a huge challenge for them to possess both wide-range measurement capability and good sensitivity. In this study, a highly stretchable strain sensor with a wide strain range and a good sensitivity is fabricated based on smart composites of carbon black (CB)/wrinkled Ecoflex. The sensor exhibits a maximum recoverable strain of up to 500% and a high gauge factor of 67.7. It has a low hysteresis, a fast signal response (as short as 120 ms), and a high reproducibility (up to 5000 cycles with a strain of 150%). The sensor is capable of detecting and capturing wide-range human activities, from speech recognition and pulse monitoring to vigorous motions. It is also applicable for real-time monitoring of robot movements and vehicle security crash in an anthropomorphic field. More importantly, the sensor is successfully used to send signals of a volunteer's breathing data to a local hospital in real time through a big data cloud platform. This research provides the feasibility of using a strain sensor for wearable Internet of things and demonstrates its exciting prospect for healthcare applications.
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http://dx.doi.org/10.1021/acsami.0c11705DOI Listing
September 2020

Ultrathin Glass-Based Flexible, Transparent, and Ultrasensitive Surface Acoustic Wave Humidity Sensor with ZnO Nanowires and Graphene Quantum Dots.

ACS Appl Mater Interfaces 2020 Sep 19;12(35):39817-39825. Epub 2020 Aug 19.

Engineering Research Center of Automotive Electrics and Control Technology, College of Mechanical and Vehicle Engineering, Hunan University, Changsha 410082, P. R. China.

Flexible electronic devices are normally based on organic polymer substrate. In this work, an ultrathin glass-based flexible, transparent, and ultrasensitive ZnO/glass surface acoustic wave (SAW) humidity sensor is developed using a composite sensing layer of ZnO nanowires (NWs) and graphene quantum dots (GQDs). It shows much larger effective electromechanical coupling coefficients and signal amplitudes, compared to those of flexible polymer-based SAW devices reported in the literature. Attributed to large specific surface areas of ZnO NWs, large numbers of hydrophilic functional groups of GQDs, as well as the formation of p-n heterojunctions between GQDs and ZnO NWs, the developed ZnO/glass flexible SAW sensor shows an ultrahigh humidity sensitivity of 40.16 kHz/% RH, along with its excellent stability and repeatability. This flexible and transparent SAW sensor has demonstrated insignificant deterioration of humidity sensing performance, when it is bent on a curved surface with a bending angle of 30°, revealing its potential applications for sensing on curved and complex surfaces. The humidity sensing and human breathing detection have further been demonstrated for wearable electronic applications using ultrathin glass-based devices with completely inorganic materials.
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http://dx.doi.org/10.1021/acsami.0c09962DOI Listing
September 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Front Genet 2020 18;11:592. Epub 2020 Jun 18.

Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Although the clinical phenotypes of probands are highly variable and typical symptoms such as coloboma and choanal atresia are not commonly manifested in this cohort, they all presented congenital heart defects. Of note, dyspnea is the most prominent symptom in all five neonatal patients, suggesting that dyspnea might be a phenotypic clue of CHARGE syndrome.
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http://dx.doi.org/10.3389/fgene.2020.00592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314916PMC
June 2020

Preparation of high drug-loading celastrol nanosuspensions and their anti-breast cancer activities in vitro and in vivo.

Sci Rep 2020 06 1;10(1):8851. Epub 2020 Jun 1.

Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100193, China.

As one of the main components of Tripterygium wilfordii Hook F, celastrol (CSL) has significant antitumor activity, but its clinical application has been limited by its poor solubility, low oral bioavailability and systemic toxicity. In this study, celastrol nanosuspensions (CSL-NSps) were prepared using an antisolvent precipitation method with poloxamer 188 (P-188) as a stabilizer at a high CSL/P-188 feeding ratio of 8:1. The resultant CSL was spherical in shape with an average particle size of 147.9 nm, a polydispersity index (PDI) of 0.12 and zeta potential of -19.2 mV. The encapsulation efficiency and drug loading content were 98.18% and 86.83%, respectively, and the X-ray diffraction (XRD) pattern showed that CSL existed in an amorphous state in the nanosuspensions. CSL-NSps were quite stable in various physiological media and plasma and were both suitable for oral and intravenous administration. Nanosuspensions greatly enhanced the in vitro dissolution, and the cumulative drug release reached approximately 69.20% within 48 h. In vivo, CSL-NSps (3 mg/kg, i.g.) displayed a significantly enhanced tumor inhibition rate (TIR) in comparison with that of CSL suspension when administered orally (TIR, 50.39%, vs. 41.16%, p < 0.05),  similar to that of PTX injection (8 mg/kg, i.v. TIR, 50.88%). CSL-NSps showed even better therapeutic efficacy than PTX injection (TIR, 64.18%, p < 0.01) when intravenously injected. This has demonstrated that, with the help of nanosuspensions, CSL is likely to be an effective and promising antitumor agent in clinic practice for the treatment of breast cancer.
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http://dx.doi.org/10.1038/s41598-020-65773-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264310PMC
June 2020

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

BMC Med Genet 2020 05 11;21(1):100. Epub 2020 May 11.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.

Background: Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure, seizures, behavioral changes and premature death. CLN5 was initially named Finnish variant late infantile NCL, it is now known to be present in other ethnic populations and with variable age of onset. Few CLN5 patients had been reported in Chinese population.

Case Presentation: In this paper, we report the symptoms of a Chinese patient who suffer from developmental regression and grand mal epilepsy for several years. The DNA was extracted from peripheral blood of proband and both parents, and then whole exome sequencing was performed using genomic DNA. Both sequence variants and copy number variants (CNVs) were analyzed and classified according to guidelines. As the result, a novel frameshift mutation c.718_719delAT/p.Met240fs in CLN5 and a de novo large deletion at 13q21.33-q31.1 which unmasked the frameshift mutation were identified in the proband. Despite the large de novo deletion, which can be classified as a pathogenic copy number variant (CNV), the patient's clinical presentation is mostly consistent with that of CLN5, except for early developmental delay which is believed due to the large deletion. Both variants were detected simultaneously by exome sequencing.

Conclusions: This is the first report of whole gene deletion in combination with a novel pathogenic sequence variant in a CLN5 patient. The two mutations detected with whole exome sequencing simultaneously proved the advantage of the sequencing technology for genetic diagnostics.
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http://dx.doi.org/10.1186/s12881-020-01039-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216669PMC
May 2020

Ultrahigh-Frequency Surface Acoustic Wave Sensors with Giant Mass-Loading Effects on Electrodes.

ACS Sens 2020 06 19;5(6):1657-1664. Epub 2020 May 19.

National Engineering Research Centre for High Efficiency Grinding, College of Mechanical and Vehicle Engineering, Hunan University, Changsha 410082, P.R. China.

Surface acoustic wave (SAW) devices are widely used for physical, chemical, and biological sensing applications, and their sensing mechanisms are generally based on frequency changes due to mass-loading effects at the acoustic wave propagation area between two interdigitated transducers (IDTs). In this paper, a new sensing mechanism has been proposed based on a significantly enhanced mass-loading effect generated directly on Au IDT electrodes, which enables significantly enhanced sensitivity, compared with that of conventional SAW devices. The fabricated ultrahigh-frequency SAW devices show a significant mass-loading effect on the electrodes. When the Au-electrode thickness increased from 12 to 25 nm, the Rayleigh mode resonant frequency decreased from 7.77 to 5.93 GHz, while that of the higher longitudinal leaky SAW decreased from 11.87 to 9.83 GHz. The corresponding mass sensitivity of 7309 MHz·mm·μg (Rayleigh mode) is ∼8.9 × 10 times larger than that of a conventional quartz crystal balance (with a frequency of 5 MHz) and ∼1000 times higher than that of conventional SAW devices (with a frequency of 978 MHz). Trinitrotoluene concentration as low as 4.4 × 10 M (mol·L) can be detected using the fabricated SAW sensor, proving its giant mass-loading effect and ultrahigh sensitivity.
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http://dx.doi.org/10.1021/acssensors.0c00259DOI Listing
June 2020

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

Mol Med Rep 2020 Jun 23;21(6):2296-2302. Epub 2020 Mar 23.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.

Congenital generalized lipodystrophy (CGL) is a clinically and genetically heterogeneous condition with autosomal recessive inheritance. CGL is classified into four subtypes on the basis of causative genes. This study reported on a 2‑month‑old male infant diagnosed with CGL with generalized lipoatrophy and skin hyperpigmentation. Whole exome sequencing (WES) identified a heterozygous small insertion (c.545_546insCCG) in Berardinelli‑Seip congenital lipodystrophy 2 (BSCL2) that was inherited from the infant's mother. Copy number variation analysis using exome data suggested a heterozygous deletion involving exon 3 that was inherited from the infant's father. This finding was confirmed by multiplex ligation‑dependent probe amplification test. Gap‑PCR revealed breakpoints and confirmed a 1274 bp heterozygous deletion encompassing exon 3 of BSCL2 (c.213‑1081_c.294+111). This deletion is different from the founder 3.3 kb deletion involving exon 3 of BSCL2 in the Peruvian population. An 11‑bp microhomology at the breakpoints may mediate the deletion, and its presence indicates the independent origins of the exon 3 deletion between Chinese and Peruvian populations. The present results expanded the mutational spectrum of the BSCL2 gene in the Chinese population and suggested that introns 2 and 3 of BSCL2 are prone to recombination. Thus, exon 3 deletion should be considered for patients with CGL2 when only one BSCL2 variant is detected through WES.
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http://dx.doi.org/10.3892/mmr.2020.11036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185175PMC
June 2020

A novel variant of IHH in a Chinese family with brachydactyly type 1.

BMC Med Genet 2020 03 24;21(1):60. Epub 2020 Mar 24.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.

Background: Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is mainly characterized by shortening or missing of the middle phalanges. In this study, Our purpose is to identify the pathogenic variations associated with BDA-1 involved in a five-generation Chinese family.

Methods: A BDA-1 family with 8 affected and 14 unaffected family members was recruited. Whole exome sequencing (WES) was performed to identify the pathogenic variant in the proband, and which was later confirmed and segregated by Sanger sequencing. The significance of variants were assessed using several molecular and bioinformatics analysis methods.

Results: We uncovered a novel heterozygous missense variant c.299A > G (p.D100G) at the mutational hotspot of IHH gene following whole-exome sequencing of a Chinese family with BDA-1. The variant co-segregated with BDA-1 in the pedigree, showed 100% penetrance for phalange phenotype with variable expressivity.

Conclusions: In conclusion, this study reports a five-generation Chinese family with BDA-1 due to a novel pathogenic variant (c.299A > G (p.D100G)) of IHH and expands the clinical and genetic spectrum of BDA-1.
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http://dx.doi.org/10.1186/s12881-020-01000-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092535PMC
March 2020

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Mol Genet Genomic Med 2020 05 11;8(5):e1212. Epub 2020 Mar 11.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Background: A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016.

Methods: A proband from a non-consanguineous Chinese family presented with neonatal severe hypotonia, respiratory distress, muscle weakness, and atrophy, as well as congenital bone fractures was performed by exome sequencing.

Results: A compound heterozygosity of a nonsense (c.932C>G,p.Ser311Ter) and an exon 5 deletion in ASCC1 segregating with phenotypes was detected, both variants are novel and pathogenic. Since ASCC1 is a relatively new disease gene, we performed the gene curation by ClinGen SOP. The existing evidence is sufficient to support a "Definitive" level of disease-gene relationship.

Conclusion: This case report expended the mutation spectrum of ASCC1 and support the notion that this novel disease also occurs in outbreed populations and this is a rare disease but may still be underdiagnosed due to its perinatal lethal outcomes.
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http://dx.doi.org/10.1002/mgg3.1212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216800PMC
May 2020

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):352-357

The First Affiliated Hospital, SRRS Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; Zhejiang DIAN Diagnostics Co., Ltd., Hangzhou, Zhejiang 310013, China; University of Rochester Medical Center, New York, NY 14642, USA.

Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18, the report will be provided to his/her parents or legal guardians). The content of genetic testing report should conform to relevant guidelines, industry standards and consensus. The decisions of clinicians will be made based on the report and clinical indications. Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members. A mechanism of follow-up visit after the genetic testing should be established with informed consent. Data should be shared by clinical institutions and genome sequencing institutions. As findings upon follow-up visit can help with further evaluation of the results, genome sequencing institutions should regularly re-analyze historical and follow-up data, and the updated results should be shared with clinical institutions. All activities involving reporting, genetic counselling, follow-up visiting, and re-analyzing should follow the relevant guidelines and regulations.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.022DOI Listing
March 2020

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):345-351

Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China.

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach. This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China. The flow-chart, common software, key parameters of bioinformatics pipeline for data processing, annotation, storage and variant classification are reviewed, which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.021DOI Listing
March 2020

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):339-344

KingMed Medical Diagnosis Center Co., Ltd., Guangzhou, Guangdong 510000, China.

With high accuracy and precision, next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases. To follow a standardized experimental procedure is the prerequisite to obtain stable, reliable, and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases. At a conference of genetic testing industry held in Shanghai, May 2019, physicians engaged in the diagnosis and treatment of genetic diseases, experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases. Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection, reception, preservation, library construction, sequencing and data quality control. Based on the discussion, a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.020DOI Listing
March 2020