Author: Rasika A. Mathias

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Preprints

Recovery of trait heritability from whole genome sequence data

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  • Site-wide: 2,363
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  • Site-wide: 2,610

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

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  • Site-wide: 1,046
  • In genomics: 95
• Year to date:
  • Site-wide: 2,289
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  • Site-wide: 5,426

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

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  • Site-wide: 4,308
  • In genomics: 478
• Year to date:
  • Site-wide: 6,775
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Comparing multi- and single-sample variant calls to improve variant call sets from deep coverage whole-genome sequencing data

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  • Site-wide: 19,538
  • In bioinformatics: 2,321
• Year to date:
  • Site-wide: 54,656
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  • Site-wide: 46,909

Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

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  • Site-wide: 26,978
  • In genetics: 1,303
• Year to date:
  • Site-wide: 93,312
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  • Site-wide: 103,623

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

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  • Site-wide: 31,796
  • In genomics: 2,827
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  • Site-wide: 73,782
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  • Site-wide: 86,843

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

• Downloaded 701 times
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  • Site-wide: 34,734
  • In genetics: 1,667
• Year to date:
  • Site-wide: 66,746
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  • Site-wide: 51,936

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

• Downloaded 667 times
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  • Site-wide: 37,110
  • In genomics: 3,162
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  • Site-wide: 76,469
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  • Site-wide: 106,328

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

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  • In genetics: 1,946
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  • Site-wide: 17,134

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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  • In genomics: 3,797
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Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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  • Site-wide: 57,151
  • In hematology: 34
• Year to date:
  • Site-wide: 6,887
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  • Site-wide: 13,531

Evolution of Hominin Polyunsaturated Fatty Acid Metabolism: From Africa to the New World

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  • Site-wide: 64,802
  • In evolutionary biology: 3,559
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  • Site-wide: 128,622

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

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  • Site-wide: 71,141
  • In genomics: 4,911
• Year to date:
  • Site-wide: 110,661
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  • Site-wide: 101,686

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

• Downloaded 321 times
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  • Site-wide: 81,089
  • In bioinformatics: 7,419
• Year to date:
  • Site-wide: 56,895
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  • Site-wide: 42,597

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: 81,335
  • In genetic and genomic medicine: 292
• Year to date:
  • Site-wide: 24,683
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  • Site-wide: 22,976

A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

• Downloaded 292 times
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  • Site-wide: 87,092
  • In genetics: 3,944
• Year to date:
  • Site-wide: 50,780
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  • Site-wide: None

Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

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  • Site-wide: 92,058
  • In genetics: 4,142
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  • Site-wide: 121,347
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  • Site-wide: 105,299

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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  • Site-wide: 107,820
  • In genetic and genomic medicine: 468
• Year to date:
  • Site-wide: 11,523
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  • Site-wide: 3,471

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

• Downloaded 178 times
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  • Site-wide: 112,334
  • In genetic and genomic medicine: 502
• Year to date:
  • Site-wide: 13,210
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  • Site-wide: 38,847

find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences

• Downloaded 157 times
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  • Site-wide: 116,686
  • In genomics: 6,477
• Year to date:
  • Site-wide: 55,223
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  • Site-wide: 51,594