11,992 results match your criteria genetic subgroups


Investigation of Patients With Eye Closure Sensitive Epilepsy With Magnetic Resonance Spectroscopy.

Clin EEG Neurosci 2021 Sep 24:15500594211040953. Epub 2021 Sep 24.

University of Health Sciences, Umraniye Training and Research Hospital, İstanbul, Turkey.

A proportion of patients diagnosed with genetic generalized epilepsy (GGE) experience eye-closure sensitivity (ECS), the underlying pathogenesis of which is unknown. In this study, we compare magnetic resonance spectroscopy (MRS) findings of healthy volunteers with patients diagnosed with GGE, with and without ECS, to detect possible explanatory differences between groups. A total of 33 patients diagnosed with GGE: 17 with ECS and 16 without, and 12 healthy volunteers are included. Read More

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September 2021

LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients.

BMC Nephrol 2021 Sep 23;22(1):316. Epub 2021 Sep 23.

Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-950, Lublin, Poland.

Background: The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. The purpose of this study was to assess the potential association of the LDLR rs688 polymorphism with cardiovascular disease (CVD) in patients with end-stage kidney disease (ESKD) undergoing hemodialysis. Read More

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September 2021

Age- and sex-dependent variation in relatedness corresponds to reproductive skew, territory inheritance and workload in cooperatively breeding cichlids.

Evolution 2021 Sep 23. Epub 2021 Sep 23.

Division of Behavioural Ecology, Institute of Ecology and Evolution, University of Bern, Hinterkappelen, Switzerland.

Kin selection plays a major role in the evolution of cooperative systems. However, many social species exhibit complex within-group relatedness structures, where kin selection alone cannot explain the occurrence of cooperative behaviour. Understanding such social structures is crucial to elucidate the evolution and maintenance of multi-layered cooperative societies. Read More

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September 2021

[ANCA-associated vasculitis].

Dtsch Med Wochenschr 2021 Oct 22;146(19):1287-1290. Epub 2021 Sep 22.

Rheumazentrum Schleswig-Holstein Mitte, Neumünster.

Gpa/mpa Induction Of Remission:  As demonstrated in the ADVOCATE-trial avacopan allows for a substantial reduction of glucocorticoid (GC) use during induction of remission. A future role of avacopan in the treatment of GPA and MPA is likely. Likewise, the PEXIVAS-trial showed that GC reduction of up to 60 % compared to standard dose was equal effective. Read More

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October 2021

Establishment and Validation of a Genetic Label Associated With M2 Macrophage Infiltration to Predict Survival in Patients With Colon Cancer and to Assist in Immunotherapy.

Front Genet 2021 6;12:726387. Epub 2021 Sep 6.

Department of Endoscopy, The First Hospital of China Medical University, Shenyang, China.

Background: Colon cancer is a malignant tumor with high morbidity and mortality. Researchers have tried to interpret it from different perspectives and divided it into different subtypes to facilitate individualized treatment. With the rise in the use of immunotherapy, its value in the field of tumor has begun to emerge. Read More

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September 2021

The genetics of cardiac failure: Role of a G protein-coupled receptor polymorphism in therapeutic response in an Indian population.

J Clin Transl Res 2021 Aug 30;7(4):501-510. Epub 2021 Jul 30.

PSG Center for Molecular Medicine and Therapeutics, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India.

Background And Aim: The incidence of heart failure (HF) is rising to epidemic proportions in developing countries like India. A lack of adequate Indian studies underscores the importance of pursuing research into HF in an Indian population. G protein-coupled receptor kinase 5 ( Gln41>Leu (rs2230345) polymorphism was reported as a genetic modifier associated with survival in HF patients. Read More

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Identification and characterization of the AINV genes in five Gossypium species with potential functions of GhAINVs under abiotic stress.

Physiol Plant 2021 Sep 18. Epub 2021 Sep 18.

State Key Laboratory of Cotton Biology, Institute of Cotton Research of CAAS, Key Laboratory of Cotton Genetic Improvement, Ministry of Agriculture, Anyang, Henan, China.

Acid invertase (AINV) is a kind of sucrose hydrolase with an important role in plants. Currently, the AINV genes have not been systematically studied in cotton. In this study, a total of 92 AINV genes were identified in five cotton species. Read More

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September 2021

People with Cerebral Palsy and Their Family's Preferences about Genomics Research.

Public Health Genomics 2021 Sep 17:1-10. Epub 2021 Sep 17.

Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

Introduction: The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.

Methods: Individuals with CP and their family members were invited to participate in the web-based survey via email (NSW/ACT CP Register) or via posts on social media by Cerebral Palsy Alliance, CP Research Network, and CP Now. Survey responses included yes/no/unsure, multiple choices, and Likert scales. Read More

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September 2021

A multi-locus approach to elucidating the evolutionary history of the clingfish Tomicodon petersii (Gobiesocidae) in the Tropical Eastern Pacific.

Mol Phylogenet Evol 2021 Sep 16;166:107316. Epub 2021 Sep 16.

Instituto Nacional de Biodiversidad (INABIO), Colección de Peces Calle Rumipamba 341, Av. De los Shyris, Parque "La Carolina", Quito, Ecuador; Laboratorio de Biología Acuática, Facultad de Biología, Universidad Michoacana de San Nicolás de Hidalgo, Edificio "R" Planta Baja, Ciudad Universitaria, Morelia, Michoacán 58030, Mexico. Electronic address:

Marine species that are widely distributed in the Tropical Eastern Pacific (TEP) has served as a model for studying biogeographic patterns resulting from the effects of intraregional habitat discontinuities and oceanographic processes on the diversification and evolution of cryptobenthic reef fishes. Tomicodon petersii, a clingfish (Gobiesocidae) endemic to the TEP, is found on very shallow rocky reefs from central Mexico to northern Peru, and in the Cocos and Galapagos islands. We evaluated the effect of likely biogeographic barriers in different parts of the TEP on the diversification process of this species. Read More

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September 2021

How much asparaginase is needed for optimal outcome in childhood acute lymphoblastic leukaemia? A systematic review.

Eur J Cancer 2021 Sep 15;157:238-249. Epub 2021 Sep 15.

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. Electronic address:

This review focuses on asparaginase, a key component of childhood acute lymphoblastic leukaemia (ALL) treatment since the 1970s. This review evaluates how much asparaginase is needed for optimal outcome in childhood ALL. We provide an overview of asparaginase dose intensity, i. Read More

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September 2021

Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey.

Am J Med Genet A 2021 Sep 18. Epub 2021 Sep 18.

Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

The coronavirus pandemic increased anxiety and stress and prevented access to health care worldwide; it is unclear how COVID-19 affected adults with a multisystem genetic disorder such as neurofibromatosis (NF). An anonymous online survey was distributed through an international registry and foundations to adults with NF (June-August 2020) to assess the impact of the pandemic on mental health and NF health care. Six hundred and thirteen adults (18-81 years; M = 45. Read More

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September 2021

Genome-wide analysis of the MYB-related transcription factor family and associated responses to abiotic stressors in Populus.

Int J Biol Macromol 2021 Sep 14;191:359-376. Epub 2021 Sep 14.

Beijing Advanced Innovation Center for Tree Breeding by Molecular Design, Beijing Forestry University, Beijing 100083, China; National Engineering Laboratory for Tree Breeding, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China. Electronic address:

MYB proteins are one of the most abundant transcription factor families in the plant kingdom. Evidence has increasingly revealed that MYB-related proteins function in diverse plant biological processes. However, little is known about the genome-wide characterization and functions of MYB-related proteins in Populus, an important model and commercial tree species. Read More

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September 2021

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China.

JAMA Netw Open 2021 Sep 1;4(9):e2125544. Epub 2021 Sep 1.

Department of Epidemiology and Biostatistics, Nantong University School of Public Health, Nantong, China.

Importance: Early identification and intervention for newborns with hearing loss (HL) may lead to improved physiological and social-emotional outcomes. The current newborn hearing screening is generally beneficial but improvements can be made.

Objective: To assess feasibility and evaluate utility of a modified genetic and hearing screening program for newborn infants. Read More

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September 2021

Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.

Neuroradiology 2021 Sep 16. Epub 2021 Sep 16.

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Purpose: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiorgan hamartomas, including cerebral lesions, with seizures as a common presentation. Most TSC patients will also experience neurocognitive comorbidities. Our objective was to use machine learning techniques incorporating clinical and imaging data to predict the occurrence of major neurocognitive disorders and seizures in TSC patients. Read More

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September 2021

Polygenic Heterogeneity Across Obsessive-Compulsive Disorder Subgroups Defined by a Comorbid Diagnosis.

Front Genet 2021 31;12:711624. Epub 2021 Aug 31.

Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Among patients with obsessive-compulsive disorder (OCD), 65-85% manifest another psychiatric disorder concomitantly or at some other time point during their life. OCD is highly heritable, as are many of its comorbidities. A possible genetic heterogeneity of OCD in relation to its comorbid conditions, however, has not yet been exhaustively explored. Read More

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The relationship between autophagy-related genes and the staging and prognosis of thyroid cancer: a bioinformatics analysis.

Gland Surg 2021 Aug;10(8):2511-2527

Department of Oncology, Zigong Fourth People's Hospital, Zigong, China.

Background: The number of patients with thyroid cancer is increasing. Autophagy is closely related to thyroid cancer. This study conducted a bioinformatics analysis to examine the relationship between autophagy-related genes and the prognosis of thyroid cancer. Read More

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Development of genus-specific universal primers for the detection of flaviviruses.

Virol J 2021 Sep 15;18(1):187. Epub 2021 Sep 15.

Department of Infectious Diseases, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.

Background: Flaviviruses are representative arboviruses carried by arthropods and/or vertebrates; these viruses can pose a public health concern in many countries. By contrast, it is known that a novel virus group called insect-specific flaviviruses (ISFs) also infects arthropods, although no such virus has yet been isolated from vertebrates. The characteristics of ISFs, which affect replication of human-pathogenic flaviviruses within co-infected mosquito cells or mosquitoes without affecting the mosquitoes themselves, mean that we should pay attention to both ISFs and human-pathogenic flaviviruses, despite the fact that ISFs appear not to be directly hazardous to human health. Read More

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September 2021

Chromatin-based, in cis and in trans regulatory rewiring underpins distinct oncogenic transcriptomes in multiple myeloma.

Nat Commun 2021 Sep 14;12(1):5450. Epub 2021 Sep 14.

Hugh & Josseline Langmuir Centre for Myeloma Research, Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London, UK.

Multiple myeloma is a genetically heterogeneous cancer of the bone marrow plasma cells (PC). Distinct myeloma transcriptome profiles are primarily driven by myeloma initiating events (MIE) and converge into a mutually exclusive overexpression of the CCND1 and CCND2 oncogenes. Here, with reference to their normal counterparts, we find that myeloma PC enhanced chromatin accessibility combined with paired transcriptome profiling can classify MIE-defined genetic subgroups. Read More

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September 2021

Gene-by-Crisis Interaction for Optimism and Meaning in Life: The Effects of the COVID-19 Pandemic.

Behav Genet 2021 Sep 13. Epub 2021 Sep 13.

Department of Biological Psychology, Vrije Universiteit Amsterdam, Van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands.

The corona virus disease 2019 (COVID-19) pandemic and the restrictions to reduce the spread of the virus has had a large impact on daily life. We investigated the individual differences in the effect of the COVID-19 pandemic and first lockdown on optimism and meaning in life in a sample from the Netherlands Twin Register. Participants completed surveys before (N = 9964, Mean age: 48. Read More

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September 2021

Lack of association of FKBP5 SNPs and haplotypes with susceptibility and treatment response phenotypes in Han Chinese with major depressive disorder: A pilot case-control study (STROBE).

Medicine (Baltimore) 2021 Sep;100(36):e26983

University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.

Abstract: The identification of single-nucleotide polymorphisms (SNPs) in genes putatively related to pathophysiological processes in major depressive disorder (MDD) might improve both diagnosis and personalized treatment strategies eventually leading to more effective interventions. Considering the important role of the glucocorticoid receptor and the related FK506 binding protein 51 (FKBP51) in the pathophysiology of MDD, we aimed to investigate putative associations between variants of FKBP5, the coding gene of FKBP51, with antidepressant treatment resistance and MDD susceptibility.Nine common SNPs of the FKBP5 gene prioritized based on location and, putative or known functions were genotyped in Han Chinese population, including MDD patients with or without antidepressant-treatment resistance and healthy controls. Read More

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September 2021

Association of gene polymorphisms with women urinary incontinence.

Open Med (Wars) 2021 25;16(1):1190-1197. Epub 2021 Aug 25.

Urology Clinic, Medical Academy, Lithuanian University of Health Sciences, A. Mickeviciaus Str. 9, Kaunas LT-44307, Lithuania.

Aim of study was set to investigate the association of women urinary incontinence (UI) with serotonin receptor T102C and beta 3-adrenergic receptor Trp64Arg genes polymorphisms. The study included 110 women with Urge, Stress, and Mixed UI types and the control group - 105 continent women. Both groups have filled in the ICIQ-FLUTS questionnaire and their blood genotyping was performed. Read More

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Verification of Single Nucleotide Polymorphisms rs34554140, rs6670279, and rs6874185 as Novel Molecular Genetic Markers of Sudden Cardiac Death.

Sovrem Tekhnologii Med 2021;13(2):40-44. Epub 2021 Jan 1.

Professor, Head of the Laboratory for Molecular Genetics of Internal Diseases, Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 Borisa Bogatkova St., Novosibirsk, 630089, Russia; Professor, Department of Medical Genetics and Biology, Faculty of Medicine, Novosibirsk State Medical University, 52 Krasny Prospekt, Novosibirsk, 630091, Russia.

was to explore the association between sudden cardiac death (SCD) and single nucleotide polymorphisms (SNPs) rs34554140, rs6670279, and rs6874185 from the list of potential molecular genetic markers of SCD, obtained in our earlier genome-wide allelotyping on pooled DNA samples.

Materials And Methods: The study is based on the case-control principle. The SCD group included 438 deceased residents of Novosibirsk (average age - 53. Read More

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January 2021

Genome-Wide Association Study of Waterlogging Tolerance in Barley ( L.) Under Controlled Field Conditions.

Front Plant Sci 2021 26;12:711654. Epub 2021 Aug 26.

Brandon Research and Development Centre, Agriculture and Agri-Food Canada, Brandon, MB, Canada.

Waterlogging is one of the main abiotic stresses severely reducing barley grain yield. Barley breeding programs focusing on waterlogging tolerance require an understanding of genetic loci and alleles in the current germplasm. In this study, 247 worldwide spring barley genotypes grown under controlled field conditions were genotyped with 35,926 SNPs with minor allele frequency (MAF) > 0. Read More

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Haplotype Variations and Evolutionary Analysis of the Granule-Bound Starch Synthase I Gene in the Korean World Rice Collection.

Front Plant Sci 2021 24;12:707237. Epub 2021 Aug 24.

Department of Plant Resources, College of Industrial Sciences, Kongju National University, Yesan-gun, South Korea.

Granule-bound starch synthase I () is responsible for gene encoding the, which is involved in the amylose synthesis step of starch biosynthesis. We investigated the genotypic and haplotypic variations of () gene, including its evolutionary relatedness in the nucleotide sequence level using single-nucleotide polymorphisms (SNPs), indels, and structural variations (SVs) from 475 Korean World Rice Collection (KRICE_CORE), which comprised 54 wild rice and 421 cultivated represented by 6 ecotypes (temperate japonica, indica, tropical japonica, aus, aromatic, and admixture) or in another way by 3 varietal types (landrace, weedy, and bred). The results revealed that 27 of 59 haplotypes indicated a total of 12 functional SNPs (fSNPs), identifying 9 novel fSNPs. Read More

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Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder.

Am J Psychiatry 2021 Sep 10:appiajp202120050630. Epub 2021 Sep 10.

Department of Child and Adolescent Psychiatry, University Hospital, Goethe University, Frankfurt am Main, Germany (Ecker, Bletsch, Mann, Schaefer, Yousaf, Chiocchetti, Bast, Freitag).

Objective: Autism spectrum disorder (ASD) is accompanied by highly individualized neuroanatomical deviations that potentially map onto distinct genotypes and clinical phenotypes. This study aimed to link differences in brain anatomy to specific biological pathways to pave the way toward targeted therapeutic interventions.

Methods: The authors examined neurodevelopmental differences in cortical thickness and their genomic underpinnings in a large and clinically diverse sample of 360 individuals with ASD and 279 typically developing control subjects (ages 6-30 years) within the EU-AIMS Longitudinal European Autism Project (LEAP). Read More

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September 2021

A New Multiplex Genetic Detection Assay Method for the Rapid Semi-Quantitative Detection of Six Common Curable Sexually Transmitted Pathogens From the Genital Tract.

Front Cell Infect Microbiol 2021 23;11:704037. Epub 2021 Aug 23.

Department of Laboratory Medicine, Huadong Hospital, Affiliated With Fudan University, Shanghai, China.

Background: Sexually transmitted infections (STIs) are some of the most common communicable conditions and exert impact on the health and lives of many hundreds of millions of people across the world every year. Screening high-risk populations and conducting comprehensive detection tests would lead to a significant improvement in preventing the transmission of STIs and help us to provide rapid treatment to those affected. Here, we successfully established and validated a novel high-throughput multiplex gene detection system (HMGS) for the simultaneous and semiquantitative detection of six important curable sexually transmitted pathogens in a single reaction from secretions samples. Read More

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Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.

Hum Genet 2021 Sep 8. Epub 2021 Sep 8.

Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.

The emergence of next-generation sequencing enabled a cost-effective and straightforward diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels. We performed a retrospective observational study to assess the diagnostic yield of CES as a first-tier genetic test in 128 consecutive pediatric patients addressed to a referral center in the North-East of France for a suspected genetic disorder, mainly an inborn error of metabolism between January 2016 and August 2020. CES was performed using the TruSight One (4811 genes) or the TruSight One expanded (6699 genes) panel on an Illumina sequencing platform. Read More

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September 2021

[Application of whole exome sequencing technology in fetuses with congenital structural abnormalities].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):900-906

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623 China.

Objective: To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.

Methods: The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Read More

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September 2021

A global alfalfa diversity panel reveals genomic selection signatures in Chinese varieties and genomic associations with root development.

J Integr Plant Biol 2021 Sep 6. Epub 2021 Sep 6.

Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, 100193, China.

Alfalfa (Medicago sativa L.) is an important forage crop worldwide. However, little is known about the effects of breeding status and different geographical populations on alfalfa improvement. Read More

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September 2021

Characterizing the Genetic Overlap Between Psychiatric Disorders and Sleep-Related Phenotypes.

Biol Psychiatry 2021 Jul 14. Epub 2021 Jul 14.

NORMENT, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, University of Oslo, Oslo, Norway. Electronic address:

Background: A range of sleep disturbances are commonly experienced by patients with psychiatric disorders, and genome-wide genetic analyses have shown some significant genetic correlations between these traits. Here, we applied novel statistical genetic methodologies to better characterize the potential shared genetic architecture between sleep-related phenotypes and psychiatric disorders.

Methods: Using the MiXeR method, which can estimate polygenic overlap beyond genetic correlation, the shared genetic architecture between major psychiatric disorders (bipolar disorder [N = 51,710], depression [N = 480,359], and schizophrenia [N = 77,096]) and sleep-related phenotypes (chronotype [N = 449,734], insomnia [N = 386,533] and sleep duration [N = 446,118]) were quantified on the basis of genetic summary statistics. Read More

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