276 results match your criteria Genetics Research [Journal]


Letter from the New Editor in Chief.

Authors:
Marc Tischkowitz

Genet Res (Camb) 2019 02 12;101:e2. Epub 2019 Feb 12.

Department of Medical Genetics,University of Cambridge.

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http://dx.doi.org/10.1017/S0016672319000028DOI Listing
February 2019

Genetics Research turns a new [open access] leaf….

Genet Res (Camb) 2019 02 7;101:e1. Epub 2019 Feb 7.

Cambridge University Press,Cambridge,UK.

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http://dx.doi.org/10.1017/S0016672318000071DOI Listing
February 2019

An efficient classification algorithm for NGS data based on text similarity.

Genet Res (Camb) 2018 09 17;100:e8. Epub 2018 Sep 17.

Department of Endocrinology,The First College of Clinical Medical Science,China Three Gorges University,Yichang Central People's Hospital,Yichang,Hubei 443000,P.R. China.

With the advancement of high-throughput sequencing technologies, the amount of available sequencing data is growing at a pace that has now begun to greatly challenge the data processing and storage capacities of modern computer systems. Removing redundancy from such data by clustering could be crucial for reducing memory, disk space and running time consumption. In addition, it also has good performance on reducing dataset noise in some analysis applications. Read More

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http://dx.doi.org/10.1017/S0016672318000058DOI Listing
September 2018
1 Read

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Genet Res (Camb) 2018 08 8;100:e7. Epub 2018 Aug 8.

Department of Biochemistry & Biotechnology,University of Gujrat,Gujrat,Pakistan.

Primary microcephaly (MCPH) is an autosomal recessive sporadic neurodevelopmental ailment with a trivial head size characteristic that is below 3-4 standard deviations. MCPH is the smaller upshot of an architecturally normal brain; a significant decrease in size is seen in the cerebral cortex. At birth MCPH presents with non-progressive mental retardation, while secondary microcephaly (onset after birth) presents with and without other syndromic features. Read More

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http://dx.doi.org/10.1017/S0016672318000046DOI Listing
August 2018
1 Read
1.470 Impact Factor

Epigenetics and bone diseases.

Genet Res (Camb) 2018 07 26;100:e6. Epub 2018 Jul 26.

Department of Biochemistry,Faculty of Medicine,University of Hong Kong,Hong Kong,China.

Owing to the development of new technologies, the epigenome, a second dimensional method for genome analysis has emerged. Epigenetic mechanisms, including DNA methylation, histone modifications and noncoding RNAs, regulate gene expression without changing the genetic sequence. These epigenetic mechanisms normally modulate gene expression, trans-generational effects and inherited expression states in various biological processes. Read More

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http://dx.doi.org/10.1017/S0016672318000034DOI Listing
July 2018
5 Reads

Stage-specific differential DNA methylation data analysis during human erythropoiesis in chromosome 16.

Genet Res (Camb) 2018 07 17;100:e5. Epub 2018 Jul 17.

Department of Computer Science,University of Massachusetts,Lowell,1 University Ave,Lowell,MA 03062,USA.

Previous studies have generated controversial findings regarding the correlation between DNA methylation in the human genome and gene expression. Some reports have indicated that promoter methylation is negatively correlated with gene expression levels; however, in some cases, a poor or positive correlation was reported. Most previous findings were based on general trends observed with whole-genome data analysis. Read More

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http://dx.doi.org/10.1017/S0016672318000022DOI Listing
July 2018
3 Reads

Association of tribbles homologue 1 gene expression in human umbilical vein endothelial cells with duration of intrauterine exposure to hyperglycaemia.

Genet Res (Camb) 2018 03 5;100:e3. Epub 2018 Mar 5.

Almazov National Medical Research Centre,Saint Petersburg,Russian Federation.

Maternal gestational diabetes mellitus (GDM) is considered to be an important factor that epigenetically predisposes offspring to metabolic and cardiovascular diseases. However, the mechanisms of how intrauterine hyperglycaemia affects offspring have not been thoroughly studied. The mammalian tribbles homologue 1 (TRIB1) gene is associated with plasma lipid concentrations and coronary artery disease (CAD). Read More

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https://www.cambridge.org/core/product/identifier/S001667231
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http://dx.doi.org/10.1017/S0016672318000010DOI Listing
March 2018
16 Reads

DNA methylation is not involved in dietary restriction induced lifespan extension in adult Drosophila.

Genet Res (Camb) 2018 02 1;100:e1. Epub 2018 Feb 1.

Institute of Animal Genetics and Breeding,Sichuan Agricultural University,Chengdu,Sichuan, 611130,P. R. China.

Dietary restriction (DR) is widely regarded as a viable intervention to extend lifespan and healthspan in diverse organisms. The precise molecular regulatory mechanisms are largely unknown. Epigenetic modifications are not stable upon DR and also keep changing with age. Read More

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http://dx.doi.org/10.1017/S0016672317000064DOI Listing
February 2018
6 Reads

Association analysis of rare and common variants with multiple traits based on variable reduction method.

Genet Res (Camb) 2018 02 1;100:e2. Epub 2018 Feb 1.

School of Mathematical Sciences,Heilongjiang University,Harbin 150080,China.

Pleiotropy, the effect of one variant on multiple traits, is widespread in complex diseases. Joint analysis of multiple traits can improve statistical power to detect genetic variants and uncover the underlying genetic mechanism. Currently, a large number of existing methods target one common variant or only rare variants. Read More

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http://dx.doi.org/10.1017/S0016672317000052DOI Listing
February 2018
2 Reads

Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.

Genet Res (Camb) 2017 08 30;99:e6. Epub 2017 Aug 30.

Department of Human and Medical Genetics,Faculty of Medicine,Vilnius University,Lithuania.

Next-generation sequencing (NGS) became an effective approach for finding novel causative genomic variants of genetic disorders and is increasingly used for diagnostic purposes. Public variant databases that gather data of pathogenic variants are being relied upon as a source for clinical diagnosis. However, research of pathogenic variants using public databases data could be carried out not only in patients, but also in healthy people. Read More

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http://dx.doi.org/10.1017/S0016672317000040DOI Listing
August 2017
41 Reads

Fine mapping by composite genome-wide association analysis.

Genet Res (Camb) 2017 06 6;99:e4. Epub 2017 Jun 6.

Department of Agronomy,Food, Natural Resources,Animals and Environment (DAFNAE),University of Padova, Viale dell'Università 16,35020 Legnaro,Italy.

Genome-wide association (GWA) studies play a key role in current genetics research, unravelling genomic regions linked to phenotypic traits of interest in multiple species. Nevertheless, the extent of linkage disequilibrium (LD) may provide confounding results when significant genetic markers span along several contiguous cM. In this study, we have adapted the composite interval mapping approach to the GWA framework (composite GWA), in order to evaluate the impact of including competing (possibly linked) genetic markers when testing for the additive allelic effect inherent to a given genetic marker. Read More

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http://dx.doi.org/10.1017/S0016672317000027DOI Listing
June 2017
12 Reads

Differential analysis of mutations in the Jewish population and their implications for diseases.

Genet Res (Camb) 2017 05 15;99:e3. Epub 2017 May 15.

Faculty of Medicine,Tel Aviv University,Tel Aviv,Israel.

Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian). We targeted American College of Medical Genetics incidental finding recommended genes and the Catalogue of Somatic Mutations in Cancer (COSMIC) germline cancer-related genes. Read More

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http://dx.doi.org/10.1017/S0016672317000015DOI Listing
May 2017
26 Reads

GRIN3B missense mutation as an inherited risk factor for schizophrenia: whole-exome sequencing in a family with a familiar history of psychotic disorders.

Genet Res (Camb) 2017 01 30;99:e1. Epub 2017 Jan 30.

Department of Psychiatry and Psychotherapy,University Medical Center,Albert-Ludwigs University,Hauptstr. 5,79104 Freiburg,Germany.

Glutamate is the most important excitatory neurotransmitter in the brain. The N-methyl-D-aspartate (NMDA) receptor is a glutamate-gated ionotropic cation channel that is composed of several subunits and modulated by a glycine binding site. Many forms of synaptic plasticity depend on the influx of calcium ions through NMDA receptors, and NMDA receptor dysfunction has been linked to a number of neuropsychiatric disorders, including schizophrenia. Read More

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https://www.cambridge.org/core/product/identifier/S001667231
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http://dx.doi.org/10.1017/S0016672316000148DOI Listing
January 2017
8 Reads

Effective experimental validation of miRNA targets using an improved linker reporter assay.

Genet Res (Camb) 2017 01 30;99:e2. Epub 2017 Jan 30.

Soonchunhyang Institute of Med-bioscience (SIMS),Sunchunhyang University,Chonan-Si,336-745,Republic of Korea.

miRNAs are small, non-coding RNAs that play critical roles in various cellular processes. Although there are several algorithms that can predict the potential candidate genes that are regulated by a miRNA, these algorithms require further experimental validation in order to demonstrate genuine targets of miRNAs. Moreover, most algorithms predict hundreds to thousands of putative target genes for each miRNA, and it is difficult to validate all candidates using the whole 3'-untranslated region (UTR) reporter assay. Read More

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http://dx.doi.org/10.1017/S001667231600015XDOI Listing
January 2017
4 Reads

Investigating genetic characteristics of hepatitis B virus-associated and -non-associated hepatocellular carcinoma.

Genet Res (Camb) 2016 11 11;98:e14. Epub 2016 Nov 11.

Department of Rehabilitation,Clinical Medicine College of Acupuncture and Rehabilitation,Guangzhou University of Chinese Medicine,Guangzhou 510000,China.

Background: Hepatocellular carcinoma (HCC) is a primary liver malignancy that mainly occurs in patients with chronic liver disease and cirrhosis. Risk factors for HCC include hepatitis B virus (HBV) infection. However, the specific role of HBV infection in HCC development is not yet completely understood. Read More

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http://dx.doi.org/10.1017/S0016672316000124DOI Listing
November 2016
5 Reads

Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.

Genet Res (Camb) 2016 11 11;98:e15. Epub 2016 Nov 11.

Translational Genetics Team,The Cyprus Institute of Neurology and Genetics,Nicosia,Cyprus.

DNA methylation is an epigenetic marker that has been shown to vary significantly across different tissues. Taking advantage of the methylation differences between placenta-derived cell-free DNA and maternal blood, several groups employed different approaches for the discovery of fetal-specific biomarkers. The aim of this study was to analyse whole-genome fetal and maternal methylomes in order to identify and confirm the presence of differentially methylated regions (DMRs). Read More

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http://dx.doi.org/10.1017/S0016672316000136DOI Listing
November 2016
15 Reads

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Genet Res (Camb) 2016 10 11;98:e13. Epub 2016 Oct 11.

Center of Medical Genetics,Faculty of Medicine and Health Sciences,University of Antwerp and Antwerp University Hospital,Antwerp,Belgium.

Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. Read More

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http://dx.doi.org/10.1017/S0016672316000112DOI Listing
October 2016
10 Reads

The molecularization of identity: science and subjectivity in the 21st century.

Genet Res (Camb) 2016 07 5;98:e12. Epub 2016 Jul 5.

African American Studies,Princeton University,003 Stanhope Hall,Princeton,NJ 08544,USA.

Recent advances in biological and computational technologies are changing the way different social groups imagine race, gender, kinship, citizenship and disease risk. Existing taxonomies are being displaced or reconfigured, impacting the ways in which people are governed, how lives are lived, how groups are known and how power is exercised. Herein we report on a two-day international symposium that we co-organized, titled 'The molecularization of identity: science and subjectivity in the 21st century,' that was held on 29-30 April 2016 at the Program on Science, Technology and Society, at Harvard University. Read More

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http://dx.doi.org/10.1017/S0016672316000094DOI Listing
July 2016
3 Reads

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.

Genet Res (Camb) 2016 06 28;98:e11. Epub 2016 Jun 28.

Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the 5'UTR of the FMR1 gene. Expansions between 55-200 CGG repeats are termed premutation and are associated with a greater risk for fragile X-associated tremor/ataxia syndrome and fragile X-associated premature ovarian insufficiency. Read More

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http://dx.doi.org/10.1017/S0016672316000082DOI Listing
June 2016
20 Reads

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Genet Res (Camb) 2016 06 6;98:e10. Epub 2016 Jun 6.

Sackler School of Medicine,Tel Aviv University,Israel.

Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial inherited Leber's hereditary optic neuropathy are the most common forms. Read More

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http://dx.doi.org/10.1017/S0016672316000070DOI Listing
June 2016
19 Reads
1 Citation
1.470 Impact Factor

Power considerations for λ inflation factor in meta-analyses of genome-wide association studies.

Genet Res (Camb) 2016 05 19;98:e9. Epub 2016 May 19.

Department of Hygiene and Epidemiology,University of Ioannina Medical School,Ioannina,Greece.

The genomic control (GC) approach is extensively used to effectively control false positive signals due to population stratification in genome-wide association studies (GWAS). However, GC affects the statistical power of GWAS. The loss of power depends on the magnitude of the inflation factor (λ) that is used for GC. Read More

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http://dx.doi.org/10.1017/S0016672316000069DOI Listing
May 2016
3 Reads

Molecular genetics of thyroid cancer.

Genet Res (Camb) 2016 05 13;98:e7. Epub 2016 May 13.

Laboratory of Molecular and Cellular Screening Processes,Centre of Biotechnology of Sfax,University of Sfax,Route Sidi Mansour,PO Box 1177,3018 Sfax,Tunisia.

The pathogenesis of the development and progression of thyroid cancer (TC) is far from being clear at present. Accumulated evidence suggests that it is a complex polygenic disorder for which genetic factors play an important role in disease aetiology. Here we review the literature to report the genetic variations and alterations that have been described in the aetiology of TC. Read More

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http://dx.doi.org/10.1017/S0016672316000057DOI Listing
May 2016
3 Reads

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Genet Res (Camb) 2016 05 13;98:e8. Epub 2016 May 13.

Genomics Research Center,Gene by Gene,Houston,Texas,USA.

Whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. Though most studies are performed in order to establish diagnoses in individuals with rare and clinically unrecognizable disorders, due to the constantly decreasing costs and commercial availability, whole-exome sequencing has gradually become the initial tool to study patients with clinically recognized disorders when more than one gene is responsible for the phenotype or in complex phenotypes, when variants in more than one gene can be the cause for the disease. Here we report a patient presenting with a complex phenotype consisting of severe, adult-onset, dilated cardiomyopathy, hearing loss and developmental delay, in which exome sequencing revealed two genetic variants that are inherited from a healthy mother: a novel missense variant in the CASK gene, mutations in which cause a spectrum of neurocognitive manifestations, and a second variant, in MYBPC3, that is associated with hereditary cardiomyopathy. Read More

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http://dx.doi.org/10.1017/S0016672316000045DOI Listing
May 2016
11 Reads

A nonparametric method to test for associations between rare variants and multiple traits.

Genet Res (Camb) 2016 ;98:e1

More and more rare genetic variants are being detected in the human genome, and it is believed that besides common variants, some rare variants also explain part of the phenotypic variance for human diseases. Due to the importance of rare variants, many statistical methods have been proposed to test for associations between rare variants and human traits. However, in existing studies, most methods only test for associations between multiple loci and one trait; therefore, the joint information of multiple traits has not been considered simultaneously and sufficiently. Read More

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December 2016
6 Reads

Rare high-impact disease variants: properties and identifications.

Genet Res (Camb) 2016 Mar 21;98:e6. Epub 2016 Mar 21.

Seoul National University Biomedical Informatics (SNUBI),Seoul National University College of Medicine,Seoul 110-799,Korea.

Although many genome-wide association studies have been performed, the identification of disease polymorphisms remains important. It is now suspected that many rare disease variants induce the association signal of common variants in linkage disequilibrium (LD). Based on recent development of genetic models, the current study provides explanations of the existence of rare variants with high impacts and common variants with low impacts. Read More

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http://dx.doi.org/10.1017/S0016672316000033DOI Listing
March 2016
25 Reads

Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.

Genet Res (Camb) 2016 Mar 7;98:e5. Epub 2016 Mar 7.

Department of Genetics,Yale School of Medicine,New Haven,CT,USA.

Hereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Read More

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http://dx.doi.org/10.1017/S0016672316000021DOI Listing
March 2016
13 Reads

The future of iPS cells in advancing regenerative medicine.

Genet Res (Camb) 2016 Feb 11;98:e4. Epub 2016 Feb 11.

The J. David Gladstone Institutes,University of California San Francisco,San Francisco,California 94158,USA.

Induced pluripotent stem (iPS) cells have great potential in regenerative medicine, including cell replacement therapies and disease modelling in vitro. However, with this potential comes several challenges, including clinical safety, reprogramming and differentiation efficiency, and compromised functionality of differentiated cell types after transplantation. Many of these issues arise from imprecise control of cell fate. Read More

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http://dx.doi.org/10.1017/S001667231600001XDOI Listing
February 2016
14 Reads

The collective nature of personalized medicine.

Genet Res (Camb) 2016 Jan 21;98:e3. Epub 2016 Jan 21.

The Edmond J. Safra Center for Ethics,Tel Aviv University,Ramat Aviv POB 39040,Tel Aviv,69978,Israel.

Precision medicine, incorporating personalized medicine, is an emerging medical model that holds great promise for improving the prevention, diagnosis and treatment of many diseases. The future success of precision medicine, however, depends on the establishment of large databases that collate diverse data, including family genealogies, disease histories, drug sensitivities and genomic data. Herein I raise some of the social and ethical challenges that such a system faces, specifically: the enrolment of volunteers into large genetic databases; the need for a change in mindset of clinicians, patients and the wider public; and the need for interdisciplinary ethics considering the emerging issues. Read More

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http://www.journals.cambridge.org/abstract_S0016672315000270
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http://dx.doi.org/10.1017/S0016672315000270DOI Listing
January 2016
5 Reads

Mutation load under additive fitness effects.

Authors:
Andrew C Bergen

Genet Res (Camb) 2015 Feb 23;97:e2. Epub 2015 Feb 23.

Molecular Genetics and Genomics Program,Washington University in St. Louis,St. Louis,Missouri, 63110,USA.

Under the traditional mutation load model based on multiplicative fitness effects, the load in a population is 1-e-U , where U is the genomic deleterious mutation rate. Because this load becomes high under large U, synergistic epistasis has been proposed as one possible means of reducing the load. However, experiments on model organisms attempting to detect synergistic epistasis have often focused on a quadratic fitness model, with the resulting general conclusion being that epistasis is neither common nor strong. Read More

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http://dx.doi.org/10.1017/S0016672314000226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957254PMC
February 2015
9 Reads

Privacy, anonymity and subjectivity in genomic research.

Genet Res (Camb) 2016 Jan 14;98:e2. Epub 2016 Jan 14.

Faculty of Medicine,Tel Aviv University,Tel Aviv,Israel.

The use of non-anonymized human genome data is becoming increasingly popular in research. Here we review the proceedings of a special meeting on this topic that took place at European Molecular Biology Organization (EMBO) in December 2014. The main points discussed centered on how to achieve 'anonymity,' 'trust,' and 'protection of data' in relation to new genomic technologies and research. Read More

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http://dx.doi.org/10.1017/S0016672315000221DOI Listing
January 2016
7 Reads

A refined high carbohydrate diet is associated with changes in the serotonin pathway and visceral obesity.

Genet Res (Camb) 2015 Dec 28;97:e23. Epub 2015 Dec 28.

School of Medical Science,Griffith University Gold Coast Campus,Griffith University,Qld,Australia,4222.

Consumption of palatable foods high in refined carbohydrate has been implicated as a contributing factor to the epidemic levels of obesity. Such foods may disrupt appetite regulation in the hypothalamus through alterations in hunger and satiety signalling. This investigation examined whether a palatable high refined carbohydrate (HRC) diet with the potential to induce obesity was linked to modulation of serotonin and dopamine signalling within the hypothalamus of rats. Read More

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http://dx.doi.org/10.1017/S0016672315000233DOI Listing
December 2015
8 Reads

Multiomic analysis of mice epilepsy models suggest that miR-21a expression modulates mRNA and protein levels related to seizure deterioration.

Genet Res (Camb) 2015 Dec 22;97:e22. Epub 2015 Dec 22.

Medicinal Chemistry and Pharmacology Institute,Inner Mongolia University for the Nationalities,Tongliao,Inner Mongolia,P.R. China.

Epilepsy is now recognized as the second most common neurological disease in China. To determine the genetic cause of epileptic encephalopathy, we performed a multiomics study using mouse models of controls, anticonvulsant mice treated with five drugs and epileptic mice. Based on genome-wide profiling analysis, we discovered four genes in the epileptic mouse group with differentially-expressed mRNA. Read More

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http://dx.doi.org/10.1017/S0016672315000245DOI Listing
December 2015
14 Reads

Challenges of using next generation sequencing in newborn screening.

Authors:
Eyal Reinstein

Genet Res (Camb) 2015 Nov 2;97:e21. Epub 2015 Nov 2.

The Raphael Recanati Genetic Institute,Rabin Medical Center,Petach-Tikva,Israel.

Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. Read More

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http://www.journals.cambridge.org/abstract_S0016672315000178
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http://dx.doi.org/10.1017/S0016672315000178DOI Listing
November 2015
5 Reads

Detecting association of rare and common variants by adaptive combination of P-values.

Genet Res (Camb) 2015 Oct 6;97:e20. Epub 2015 Oct 6.

Department of Mathematics,School of Science,Harbin Institute of Technology,Harbin 150001,China.

Genome-wide association studies (GWAS) can detect common variants associated with diseases. Next generation sequencing technology has made it possible to detect rare variants. Most of association tests, including burden tests and nonburden tests, mainly target rare variants by upweighting rare variant effects and downweighting common variant effects. Read More

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http://dx.doi.org/10.1017/S0016672315000208DOI Listing
October 2015
6 Reads

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

Genet Res (Camb) 2015 Oct 6;97:e19. Epub 2015 Oct 6.

Department of Human Genetics,Radboud Institute for Molecular Life Sciences,Radboud University Medical Center,Nijmegen,the Netherlands.

This report is regarding a Dutch female with microcephaly, mild intellectual disability (ID), gonadal dysgenesis and dysmorphic facial features with synophrys. Upon genotyping, an ~455 kb de novo deletion encompassing the first exon of NRXN1 was found. Bidirectional sequencing of the coding exons of the NRXN1 alpha isoform was subsequently performed to investigate the possibility of a pathogenic mutation on the other allele, but we could not find any other mutation. Read More

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http://search.proquest.com/openview/8ede737de502b58a849f6a74
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http://www.journals.cambridge.org/abstract_S001667231500021X
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http://dx.doi.org/10.1017/S001667231500021XDOI Listing
October 2015
6 Reads

Next generation sequencing for newborn screening: are we there yet?

Authors:
Eitan Friedman

Genet Res (Camb) 2015 Sep 22;97:e17. Epub 2015 Sep 22.

Director,Oncogenetics Unit,Institute of Human Genetics, Chaim Sheba Medical Center,Tel-Hashomer,Israel.

Screening programs for asymptomatic newborns (newborn screening - NBS) have increasingly been implemented in many westernized countries since the end of the 20th century (Wilson et al., 2010). The major goal of these programs is to unselectively screen all newborns for a well defined group of severe, rare, clearly identifiable and actionable conditions. Read More

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http://dx.doi.org/10.1017/S001667231500018XDOI Listing
September 2015
10 Reads

Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.

Genet Res (Camb) 2015 Sep 22;97:e18. Epub 2015 Sep 22.

Genetics and Genomics Lab,Department of Studies in Genetics & Genomics,University of Mysore,Manasagangotri,Mysore-06,Karnataka,India.

Global patterns of copy number variations (CNVs) in chromosomes are required to understand the dynamics of genome organization and complexity. For this study, analysis was performed using the Affymetrix Genome-Wide Human SNP Array 6.0 chip and CytoScan High-Density arrays. Read More

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http://www.journals.cambridge.org/abstract_S0016672315000191
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http://dx.doi.org/10.1017/S0016672315000191DOI Listing
September 2015
3 Reads

The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Genet Res (Camb) 2015 Sep 14;97:e15. Epub 2015 Sep 14.

Rare Genomics Institute,5225 Pooks Hills Road,Suite 1701N,Bethesda,MD 20814,USA.

There are an estimated 6000-8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. Read More

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http://dx.doi.org/10.1017/S0016672315000166DOI Listing
September 2015
5 Reads

Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.

Genet Res (Camb) 2015 Sep 14;97:e16. Epub 2015 Sep 14.

Department of Neuroscience,Functional Pharmacology,Uppsala University,BMC,Uppsala,Sweden.

Genome-wide association studies (GWAS) have revealed association of a locus approximately 25b downstream of the TMEM18 gene with body mass and obesity. We utilized targeted re-sequencing of the body mass associated locus in proximity of TMEM18 in a case-control population of severely obese children and adolescents from the Stockholm area. We expanded our study to include the TMEM18 gene itself, with the aim of identifying body mass associated genetic variants. Read More

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http://dx.doi.org/10.1017/S0016672315000117DOI Listing
September 2015
20 Reads

The role of GRIK4 gene in treatment-resistant depression.

Genet Res (Camb) 2015 Jul 3;97:e14. Epub 2015 Jul 3.

Department of Molecular and Translational Medicine,University of Brescia,Brescia,Italy.

Several lines of evidence implicate abnormalities in glutamatergic neural transmission in major depressive disorder (MDD) and treatment response. A high percentage of MDD patients do not respond adequately to antidepressants and are classified as having treatment-resistant depression (TRD). In this study we investigated five GRIK4 variants, previously associated with antidepressants response, in an Italian cohort of 247 MDD no-TRD and 380 TRD patients. Read More

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http://search.proquest.com/openview/f7a15acc2559bd307816a636
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http://www.journals.cambridge.org/abstract_S0016672315000142
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http://dx.doi.org/10.1017/S0016672315000142DOI Listing
July 2015
3 Reads

Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders.

Genet Res (Camb) 2015 Jun 1;97:e13. Epub 2015 Jun 1.

Genomind, Inc.,King of Prussia,PA,USA.

Pharmacogenetic/pharmacogenomic (PGx) testing is currently available for a wide range of health problems including cardiovascular disease, cancer, diabetes, autoimmune disorders, mental health disorders and infectious diseases. PGx contributes important information to the field of precision medicine by clarifying appropriate treatments for specific disease subtypes. Tangible benefits to patients including improved outcomes and reduced total health care costs have been observed. Read More

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http://www.journals.cambridge.org/abstract_S0016672315000099
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http://dx.doi.org/10.1017/S0016672315000099DOI Listing
June 2015
4 Reads

GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer.

Genet Res (Camb) 2015 May 20;97:e11. Epub 2015 May 20.

The Susanne Levy Gertner Oncogenetics Unit,Institute of Human Genetics,Tel-Hashomer,Israel.

Background: A 40 kb ancestral germline duplication upstream of the GREM1 gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS).

Objective: Assess the contribution of the GREM1 mutation to familial colorectal cancer (CRC) in Ashkenazim.

Methods: Jewish Ashkenazi individuals (n = 472 155 males, 317 females) were genotyped for the GREM1 duplication, 194 with CRC, 131 had other cancer types (endometrial, pancreatic and ovarian) that show a syndromic association with CRC, and 147 were cancer-free with a suggestive family history of CRC. Read More

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http://dx.doi.org/10.1017/S0016672315000105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745135PMC
May 2015
9 Reads

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Genet Res (Camb) 2015 ;97:e10

As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. Read More

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April 2016
9 Reads

Genome-wide interaction analysis of quantitative traits in outbred mice.

Genet Res (Camb) 2015 Apr 20;97:e9. Epub 2015 Apr 20.

School of Mathematical Sciences,Heilongjiang University,Harbin 150080,China.

With a large number of quantitative trait loci being identified in genome-wide association studies, researchers have become more interested in detecting interactions among genes or single nucleotide polymorphisms (SNPs). In this research, we carried out a two-stage model selection procedure to detect interacting gene pairs or SNP pairs associated with four important traits of outbred mice, including glucose, high-density lipoprotein cholesterol, diastolic blood pressure and triglyceride. In the first stage, a variance heterogeneity test was used to screen for candidate SNPs. Read More

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http://dx.doi.org/10.1017/S0016672315000038DOI Listing
April 2015
2 Reads

Evaluation of the p53 Arg72Pro polymorphism and its association with cancer risk: a HuGE review and meta-analysis.

Genet Res (Camb) 2015 Apr 17;97:e7. Epub 2015 Apr 17.

Department of Bioinformatics,Mohammad Ali Jinnah University,Islamabad,Pakistan.

Codon 72 is a hotspot of polymorphisms in the TP53 gene, which encodes a hub protein in the protein-protein interaction network of p53. It is thus a central player in the apoptotic pathway, preventing cancer. A large number of articles have been published exploring its association with an increased susceptibility to most common cancers. Read More

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http://dx.doi.org/10.1017/S0016672315000075DOI Listing
April 2015
2 Reads

ReMo-SNPs: a new software tool for identification of polymorphisms in regions and motifs genome-wide.

Genet Res (Camb) 2015 Apr 17;97:e8. Epub 2015 Apr 17.

Department of Neuroscience,Karolinska Institutet,Retzius väg 8,171 77 Stockholm.

Studies of complex genetic diseases have revealed many risk factors of small effect, but the combined amount of heritability explained is still low. Genome-wide association studies are often underpowered to identify true effects because of the very large number of parallel tests. There is, therefore, a great need to generate data sets that are enriched for those markers that have an increased a priori chance of being functional, such as markers in genomic regions involved in gene regulation. Read More

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http://dx.doi.org/10.1017/S0016672315000051DOI Listing
April 2015
5 Reads

Inference of posterior inclusion probability of QTLs in Bayesian shrinkage analysis.

Genet Res (Camb) 2015 Apr 10;97:e6. Epub 2015 Apr 10.

Life Science College,Heilongjiang Bayi Agricultural University,Daqing,163319,P.R. China.

Bayesian shrinkage analysis estimates all QTLs effects simultaneously, which shrinks the effect of "insignificant" QTLs close to zero so that it does not need special model selection. Bayesian shrinkage estimation usually has an excellent performance on multiple QTLs mapping, but it could not give a probabilistic explanation of how often a QTLs is included in the model, also called posterior inclusion probability, which is important to assess the importance of a QTL. In this research, two methods, FitMix and SimMix, are proposed to approximate the posterior probabilities. Read More

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http://dx.doi.org/10.1017/S0016672315000014DOI Listing
April 2015
3 Reads

Whole-exome sequencing and its impact in hereditary hearing loss.

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.

Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. Read More

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http://dx.doi.org/10.1017/S001667231500004XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503681PMC
March 2015
8 Reads

Spry2 regulates signalling dynamics and terminal bud branching behaviour during lung development.

Genet Res (Camb) 2015 Mar 31;97:e5. Epub 2015 Mar 31.

Department of Biomedical Sciences,Cornell University,Ithaca,NY 14853,USA.

Development of mammalian lung involves reiterative outgrowth and branching of an epithelial tube into the surrounding mesenchymal bed. Each coordinated growth and branching cycle is driven by reciprocal signalling between epithelial and adjacent mesenchymal cells. This signalling network includes FGF, SHH, BMP4 and other pathways. Read More

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http://dx.doi.org/10.1017/S0016672315000026DOI Listing
March 2015
6 Reads