Author: Goncalo Abecasis

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Preprints

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

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Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

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  • Site-wide: 3,730
  • In genomics: 418
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  • Site-wide: 49,172

Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

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  • Site-wide: 10,016
  • In genetics: 478
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Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

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  • Site-wide: 12,069
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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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  • Site-wide: 17,517
  • In genetic and genomic medicine: 59
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Imputation aware tag SNP selection to improve power for multi-ethnic association studies

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De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

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Novel KITLG regulatory variants are associated with lung function in African American children with asthma

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  • In allergy and immunology: 72
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GWAS of stool frequency reveals genes, pathways, and cell types relevant to human gastrointestinal motility and irritable bowel syndrome

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  • In gastroenterology: 51
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Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

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Association of mitochondrial DNA copy number with cardiometabolic diseases in a large cross-sectional study of multiple ancestries

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  • In epidemiology: 3,580
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Genetic architectures of proximal and distal colorectal cancer are partly distinct

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  • Site-wide: 97,282
  • In genetic and genomic medicine: 388
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Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

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