Author: Sekar Kathiresan

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Preprints

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

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  • Site-wide: 307
  • In genomics: 11
• Year to date:
  • Site-wide: 24,137
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  • Site-wide: 19,850

An open resource of structural variation for medical and population genetics

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  • Site-wide: 712
  • In genomics: 53
• Year to date:
  • Site-wide: 8,402
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  • Site-wide: 11,308

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

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  • Site-wide: 1,109
  • In genetic and genomic medicine: 6
• Year to date:
  • Site-wide: 19,952
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  • Site-wide: 22,055

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

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  • Site-wide: 2,056
  • In genomics: 213
• Year to date:
  • Site-wide: 43,021
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  • Site-wide: 42,275

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

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  • Site-wide: 3,982
  • In genetics: 168
• Year to date:
  • Site-wide: 54,712
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  • Site-wide: 72,766

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

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  • Site-wide: 4,301
  • In genomics: 478
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  • Site-wide: 6,605
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  • Site-wide: 6,577

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

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  • Site-wide: 5,431
  • In genetics: 249
• Year to date:
  • Site-wide: 15,869
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  • Site-wide: 18,533

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 5,608
  • In bioinformatics: 634
• Year to date:
  • Site-wide: 63,820
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  • Site-wide: 54,788

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

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  • Site-wide: 5,829
  • In genomics: 659
• Year to date:
  • Site-wide: 60,120
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  • Site-wide: 87,112

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

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  • Site-wide: 6,102
  • In genetics: 287
• Year to date:
  • Site-wide: 108,325
• Since beginning of last month:
  • Site-wide: 90,615

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

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  • Site-wide: 6,993
  • In genomics: 771
• Year to date:
  • Site-wide: 126,806
• Since beginning of last month:
  • Site-wide: 110,974

Biological and clinical insights from genetics of insomnia symptoms

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  • Site-wide: 7,607
  • In genomics: 829
• Year to date:
  • Site-wide: 12,609
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  • Site-wide: 13,830

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

• Downloaded 1,851 times
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  • Site-wide: 8,411
  • In genetics: 395
• Year to date:
  • Site-wide: 88,437
• Since beginning of last month:
  • Site-wide: 90,901

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

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  • Site-wide: 8,725
  • In genetics: 408
• Year to date:
  • Site-wide: 4,599
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  • Site-wide: 2,869

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

• Downloaded 1,409 times
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  • Site-wide: 12,584
  • In genomics: 1,358
• Year to date:
  • Site-wide: 29,841
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  • Site-wide: 33,895

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,227 times
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  • Site-wide: 15,563
  • In genetics: 768
• Year to date:
  • Site-wide: 27,362
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  • Site-wide: 29,045

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

• Downloaded 1,121 times
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  • Site-wide: 17,756
  • In hiv aids: 8
• Year to date:
  • Site-wide: 8,111
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  • Site-wide: 5,744

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

• Downloaded 829 times
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  • Site-wide: 27,431
  • In genomics: 2,546
• Year to date:
  • Site-wide: 44,451
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  • Site-wide: 51,251

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

• Downloaded 828 times
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  • Site-wide: 27,471
  • In genetics: 1,337
• Year to date:
  • Site-wide: 60,206
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  • Site-wide: 62,248

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

• Downloaded 822 times
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  • Site-wide: 27,812
  • In cardiovascular medicine: 41
• Year to date:
  • Site-wide: 56,411
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  • Site-wide: 52,549

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

• Downloaded 757 times
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  • Site-wide: 31,207
  • In genetics: 1,504
• Year to date:
  • Site-wide: 133,716
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  • Site-wide: 129,116

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

• Downloaded 751 times
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  • Site-wide: 31,499
  • In genomics: 2,813
• Year to date:
  • Site-wide: 95,856
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  • Site-wide: 110,540

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

• Downloaded 747 times
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  • Site-wide: 31,734
  • In genomics: 2,826
• Year to date:
  • Site-wide: 72,997
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  • Site-wide: 87,165

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

• Downloaded 744 times
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  • Site-wide: 31,976
  • In genomics: 2,836
• Year to date:
  • Site-wide: 14,836
• Since beginning of last month:
  • Site-wide: 22,309

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

• Downloaded 740 times
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  • Site-wide: 32,196
  • In genomics: 2,851
• Year to date:
  • Site-wide: 117,005
• Since beginning of last month:
  • Site-wide: 130,966

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

• Downloaded 617 times
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  • Site-wide: 40,950
  • In genetics: 1,943
• Year to date:
  • Site-wide: 5,104
• Since beginning of last month:
  • Site-wide: 16,333

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

• Downloaded 410 times
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  • Site-wide: 65,295
  • In genetics: 3,011
• Year to date:
  • Site-wide: 90,473
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  • Site-wide: 104,767

EDEM3 modulates plasma triglyceride level through its regulation of LRP1 expression

• Downloaded 399 times
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  • Site-wide: 66,987
  • In genetics: 3,088
• Year to date:
  • Site-wide: 85,678
• Since beginning of last month:
  • Site-wide: 73,634

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

• Downloaded 153 times
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  • Site-wide: 117,362
  • In genetic and genomic medicine: 541
• Year to date:
  • Site-wide: 108,509
• Since beginning of last month:
  • Site-wide: 95,665