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  1. No Access

    Article

    Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project

    To leverage the genetic diversity in Nigeria, we established the Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) consortium to help produce a comprehensive catalog of human genetic variation in Nige...

    Segun Fatumo, Aminu Yakubu, Olubukunola Oyedele, Jumi Popoola in Nature Genetics (2022)

  2. Article

    Open Access

    Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

    Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID-19). Here, through a genome-wide assoc...

    Julie E. Horowitz, Jack A. Kosmicki, Amy Damask, Deepika Sharma in Nature Genetics (2022)

  3. Article

    Computationally efficient whole-genome regression for quantitative and binary traits

    Genome-wide association analysis of cohorts with thousands of phenotypes is computationally expensive, particularly when accounting for sample relatedness or population structure. Here we present a novel machi...

    Joelle Mbatchou, Leland Barnard, Joshua Backman, Anthony Marcketta in Nature Genetics (2021)

  4. Article

    Open Access

    Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry

    Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions of individuals worldwide. While rare genetic variants play a role in the etiology of schizophrenia, most...

    Tim B. Bigdeli, Giulio Genovese, Penelope Georgakopoulos in Molecular Psychiatry (2020)

  5. Article

    Open Access

    Exome sequencing and characterization of 49,960 individuals in the UK Biobank

    The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-seq...

    Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua D. Backman, Joshua D. Hoffman in Nature (2020)

  6. Article

    Open Access

    Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

    Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and...

    Jason Flannick, Josep M. Mercader, Christian Fuchsberger, Miriam S. Udler in Nature (2019)

  7. No Access

    Article

    Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

    To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of >1,000,000 people, including 60,620 atrial fibrillation cases a...

    Jonas B. Nielsen, Rosa B. Thorolfsdottir, Lars G. Fritsche, Wei Zhou in Nature Genetics (2018)

  8. Article

    Open Access

    Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

    Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 functio...

    Viktoria Gusarova, Colm O’Dushlaine, Tanya M. Teslovich in Nature Communications (2018)

  9. Article

    Open Access

    Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder

    Obsessive-compulsive disorder is a severe psychiatric disorder linked to abnormalities in glutamate signaling and the cortico-striatal circuit. We sequenced coding and regulatory elements for 608 genes potenti...

    Hyun Ji Noh, Ruqi Tang, Jason Flannick, Colm O’Dushlaine in Nature Communications (2017)

  10. No Access

    Article

    Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

    The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in case...

    Christian R Marshall, Daniel P Howrigan, Daniele Merico in Nature Genetics (2017)

  11. No Access

    Article

    A polygenic burden of rare disruptive mutations in schizophrenia

    Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls...

    Shaun M. Purcell, Jennifer L. Moran, Menachem Fromer, Douglas Ruderfer in Nature (2014)

  12. No Access

    Article

    Genome-wide association analysis identifies 13 new risk loci for schizophrenia

    Patrick Sullivan and colleagues report a multi-stage genome-wide association study for schizophrenia in a Swedish population. They identify 13 loci newly associated with schizophrenia.

    Stephan Ripke, Colm O'Dushlaine, Kimberly Chambert, Jennifer L Moran in Nature Genetics (2013)