Author: Sekar Kathiresan

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Preprints

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

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  • Site-wide: 392
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  • Site-wide: 53,264

An open resource of structural variation for medical and population genetics

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  • Site-wide: 896
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• Year to date:
  • Site-wide: 12,371
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  • Site-wide: 33,556

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

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  • Site-wide: 1,382
  • In genetic and genomic medicine: 6
• Year to date:
  • Site-wide: 23,199
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  • Site-wide: 35,517

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

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  • Site-wide: 2,563
  • In genomics: 241
• Year to date:
  • Site-wide: 47,258
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  • Site-wide: 46,544

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

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  • Site-wide: 4,657
  • In genetics: 176
• Year to date:
  • Site-wide: 39,603
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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

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  • Site-wide: 4,785
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  • Site-wide: 10,358
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  • Site-wide: 16,281

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

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  • Site-wide: 6,217
  • In genetics: 257
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  • Site-wide: 24,062
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  • Site-wide: 29,149

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 6,832
  • In bioinformatics: 724
• Year to date:
  • Site-wide: 87,346
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  • Site-wide: 147,937

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

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  • Site-wide: 6,987
  • In genomics: 728
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  • Site-wide: 68,489
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  • Site-wide: 38,863

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

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  • Site-wide: 7,441
  • In genetics: 319
• Year to date:
  • Site-wide: 5,013
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  • Site-wide: 7,784

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

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  • Site-wide: 7,444
  • In genetics: 320
• Year to date:
  • Site-wide: 115,011
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  • Site-wide: 100,499

Biological and clinical insights from genetics of insomnia symptoms

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  • Site-wide: 7,813
  • In genomics: 798
• Year to date:
  • Site-wide: 12,908
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  • Site-wide: 18,234

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

• Downloaded 2,118 times
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  • Site-wide: 8,673
  • In genomics: 870
• Year to date:
  • Site-wide: 149,512
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  • Site-wide: 148,933

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

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  • Site-wide: 10,163
  • In genetics: 432
• Year to date:
  • Site-wide: 110,000
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  • Site-wide: 110,248

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

• Downloaded 1,776 times
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  • Site-wide: 11,241
  • In hiv aids: 6
• Year to date:
  • Site-wide: 5,069
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  • Site-wide: 5,454

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

• Downloaded 1,511 times
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  • Site-wide: 14,239
  • In genomics: 1,421
• Year to date:
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  • Site-wide: 56,804

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

• Downloaded 1,427 times
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  • Site-wide: 15,610
  • In genetic and genomic medicine: 71
• Year to date:
  • Site-wide: 2,629
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  • Site-wide: 2,868

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 16,879
  • In genetics: 758
• Year to date:
  • Site-wide: 38,042
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  • Site-wide: 47,679

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

• Downloaded 1,191 times
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  • Site-wide: 20,453
  • In genetics: 918
• Year to date:
  • Site-wide: 4,959
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  • Site-wide: 1,907

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

• Downloaded 906 times
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  • Site-wide: 30,529
  • In genomics: 2,654
• Year to date:
  • Site-wide: 65,981
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  • Site-wide: 58,255

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

• Downloaded 895 times
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  • Site-wide: 31,037
  • In cardiovascular medicine: 51
• Year to date:
  • Site-wide: 75,212
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  • Site-wide: 122,605

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

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  • Site-wide: 31,432
  • In genomics: 2,709
• Year to date:
  • Site-wide: 25,576
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  • Site-wide: 41,847

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 877 times
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  • Site-wide: 32,008
  • In genetics: 1,436
• Year to date:
  • Site-wide: 94,300
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  • Site-wide: 107,744

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

• Downloaded 806 times
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  • Site-wide: 36,038
  • In genomics: 3,002
• Year to date:
  • Site-wide: 93,099
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  • Site-wide: 93,710

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

• Downloaded 788 times
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  • Site-wide: 37,233
  • In genomics: 3,072
• Year to date:
  • Site-wide: 124,325
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  • Site-wide: 135,545

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

• Downloaded 782 times
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  • Site-wide: 37,615
  • In genetics: 1,666
• Year to date:
  • Site-wide: 153,342
• Since beginning of last month:
  • Site-wide: 143,154

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

• Downloaded 754 times
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  • Site-wide: 39,673
  • In genomics: 3,213
• Year to date:
  • Site-wide: 155,589
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  • Site-wide: 156,239

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

• Downloaded 470 times
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  • Site-wide: 71,296
  • In genetics: 3,083
• Year to date:
  • Site-wide: 99,930
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  • Site-wide: 72,622

EDEM3 modulates plasma triglyceride level through its regulation of LRP1 expression

• Downloaded 430 times
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  • Site-wide: 78,302
  • In genetics: 3,360
• Year to date:
  • Site-wide: 127,012
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  • Site-wide: 90,653

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

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  • Site-wide: 106,581
  • In genetic and genomic medicine: 555
• Year to date:
  • Site-wide: 54,356
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  • Site-wide: 26,679