Author: Sekar Kathiresan

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

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  • Site-wide: 341
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  • Site-wide: 30,789
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  • Site-wide: 44,851

An open resource of structural variation for medical and population genetics

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  • Site-wide: 792
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• Year to date:
  • Site-wide: 10,294
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  • Site-wide: 11,484

Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer

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  • Site-wide: 1,244
  • In genetic and genomic medicine: 6
• Year to date:
  • Site-wide: 18,968
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  • Site-wide: 12,408

Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease

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  • Site-wide: 2,333
  • In genomics: 230
• Year to date:
  • Site-wide: 48,258
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  • Site-wide: 40,425

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 4,283
  • In genetics: 168
• Year to date:
  • Site-wide: 30,787
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  • Site-wide: 7,397

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

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  • Site-wide: 4,566
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  • Site-wide: 8,978
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  • Site-wide: 16,926

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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  • Site-wide: 5,891
  • In genetics: 254
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  • Site-wide: 22,126
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  • Site-wide: 36,465

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 6,286
  • In bioinformatics: 681
• Year to date:
  • Site-wide: 78,719
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  • Site-wide: None

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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  • Site-wide: 6,501
  • In genomics: 701
• Year to date:
  • Site-wide: 70,156
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  • Site-wide: 87,391

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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  • Site-wide: 6,834
  • In genetics: 306
• Year to date:
  • Site-wide: 103,386
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  • Site-wide: 74,095

Biological and clinical insights from genetics of insomnia symptoms

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  • Site-wide: 7,598
  • In genomics: 797
• Year to date:
  • Site-wide: 11,749
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  • Site-wide: 10,947

Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases

• Downloaded 2,105 times
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  • Site-wide: 7,906
  • In genetics: 350
• Year to date:
  • Site-wide: 4,947
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  • Site-wide: 5,605

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

• Downloaded 2,103 times
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  • Site-wide: 7,919
  • In genomics: 835
• Year to date:
  • Site-wide: 137,567
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  • Site-wide: 143,079

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 9,407
  • In genetics: 416
• Year to date:
  • Site-wide: 99,308
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  • Site-wide: 116,365

A high-resolution HLA reference panel capturing global population diversity enables multi-ethnic fine-mapping in HIV host response

• Downloaded 1,498 times
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  • Site-wide: 13,024
  • In hiv aids: 7
• Year to date:
  • Site-wide: 5,400
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  • Site-wide: 4,504

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

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  • Site-wide: 13,448
  • In genomics: 1,389
• Year to date:
  • Site-wide: 38,502
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  • Site-wide: 51,216

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 16,204
  • In genetics: 761
• Year to date:
  • Site-wide: 32,925
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  • Site-wide: 34,925

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

• Downloaded 939 times
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  • Site-wide: 26,086
  • In genetic and genomic medicine: 99
• Year to date:
  • Site-wide: 3,015
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  • Site-wide: 398

Prevalence and clinical importance of titin truncating variants in adults without known congestive heart failure

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  • Site-wide: 29,317
  • In cardiovascular medicine: 46
• Year to date:
  • Site-wide: 63,785
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  • Site-wide: 56,315

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 858 times
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  • Site-wide: 29,630
  • In genetics: 1,380
• Year to date:
  • Site-wide: 74,892
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  • Site-wide: 79,743

Analysis of cardiac magnetic resonance imaging traits in 29,000 individuals reveals shared genetic basis with dilated cardiomyopathy

• Downloaded 852 times
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  • Site-wide: 29,906
  • In genomics: 2,661
• Year to date:
  • Site-wide: 67,413
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  • Site-wide: 99,446

South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine

• Downloaded 809 times
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  • Site-wide: 32,157
  • In genomics: 2,816
• Year to date:
  • Site-wide: 23,105
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  • Site-wide: 49,483

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

• Downloaded 775 times
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  • Site-wide: 34,114
  • In genomics: 2,922
• Year to date:
  • Site-wide: 84,356
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  • Site-wide: 136,953

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

• Downloaded 770 times
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  • Site-wide: 34,389
  • In genetics: 1,586
• Year to date:
  • Site-wide: 140,481
• Since beginning of last month:
  • Site-wide: 136,983

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

• Downloaded 769 times
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  • Site-wide: 34,472
  • In genomics: 2,943
• Year to date:
  • Site-wide: 109,682
• Since beginning of last month:
  • Site-wide: 80,620

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

• Downloaded 748 times
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  • Site-wide: 35,820
  • In genetics: 1,658
• Year to date:
  • Site-wide: 8,098
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  • Site-wide: 19,926

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

• Downloaded 742 times
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  • Site-wide: 36,247
  • In genomics: 3,055
• Year to date:
  • Site-wide: 144,101
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  • Site-wide: 146,215

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

• Downloaded 433 times
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  • Site-wide: 69,504
  • In genetics: 3,110
• Year to date:
  • Site-wide: 100,898
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  • Site-wide: 107,173

EDEM3 modulates plasma triglyceride level through its regulation of LRP1 expression

• Downloaded 406 times
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  • Site-wide: 73,988
  • In genetics: 3,270
• Year to date:
  • Site-wide: 120,448
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  • Site-wide: 134,270

Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

• Downloaded 231 times
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  • Site-wide: 111,610
  • In genetic and genomic medicine: 546
• Year to date:
  • Site-wide: 58,693
• Since beginning of last month:
  • Site-wide: 46,933