Author: James B Meigs

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Preprints

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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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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  • In genomics: 494
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A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

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  • In genetic and genomic medicine: 32
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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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  • In genetic and genomic medicine: 50
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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Cardiometabolic Risk Factors for COVID-19 Susceptibility and Severity: A Mendelian Randomization Analysis

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  • In epidemiology: 1,004
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Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.

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  • Site-wide: 13,331
  • In genetic and genomic medicine: 64
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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: 14,042
  • In genetics: 546
• Year to date:
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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

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  • Site-wide: 18,031
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  • Site-wide: 21,983

COVID-19 Outpatient Screening: a Prediction Score for Adverse Events

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 90,753
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • In genetics: 1,113
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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  • Site-wide: 32,255
  • In genetic and genomic medicine: 160
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Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

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Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

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  • Site-wide: 57,548
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A combined polygenic score of 21,293 rare and 22 common variants significantly improves diabetes diagnosis based on hemoglobin A1C levels

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  • Site-wide: 67,319
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Validation of a Trans-Ancestry Polygenic Risk Score for Type 2 Diabetes in Diverse Populations

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  • Site-wide: 71,872
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Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

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  • Site-wide: 99,883
  • In genetics: 3,726
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  • Site-wide: 188,666
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Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

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  • In genetic and genomic medicine: 572
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Genome-wide polygenic score with APOL1 risk genotypes predicts chronic kidney disease across major continental ancestries

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  • In genetic and genomic medicine: 806
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Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

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  • Site-wide: 111,243
  • In genomics: 6,201
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Massachusetts General Hospital Covid-19 Registry reveals two distinct populations of hospitalized patients by race and ethnicity

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  • Site-wide: 128,261
  • In infectious diseases: 5,688
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A MUC5B gene polymorphism, rs35705950-T, confers protective effects in COVID-19 infection

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A long noncoding RNA, LOC157273, is the effector transcript at the chromosome 8p23.1-PPP1R3B metabolic traits and type 2 diabetes risk locus

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  • Site-wide: 164,213
  • In genomics: 7,803
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  • Site-wide: 165,531

Polygenic predisposition to venous thromboembolism is associated with increased COVID-19 positive testing rates

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  • Site-wide: 171,942
  • In hematology: 144
• Year to date:
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  • Site-wide: 32,564