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Author: Sekar Kathiresan

Rankings

  • All-time downloads: 83,840 (rank: 1,812 )
  • Categories:
    • bioinformatics: 2,466 (rank: 6,175 (tie) )
    • cardiovascular medicine: 864 (rank: 601 (tie) )
    • genetic and genomic medicine: 9,075 (rank: 91 )
    • genetics: 16,605 (rank: 877 )
    • genomics: 53,332 (rank: 169 )
    • hiv aids: 1,498 (rank: 70 (tie) )

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Preprints

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

genomics more details view paper
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    • Site-wide: 341
    • In genomics: 13
  • Year to date:
    • Site-wide: 30,789
  • Since beginning of last month:
    • Site-wide: 44,851

An open resource of structural variation for medical and population genetics

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  • Downloaded 11,158 times
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    • Site-wide: 792
    • In genomics: 56
  • Year to date:
    • Site-wide: 10,294
  • Since beginning of last month:
    • Site-wide: 11,484

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

genetic and genomic medicine more details view paper
  • Downloaded 7,905 times
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    • Site-wide: 1,244
    • In genetic and genomic medicine: 6
  • Year to date:
    • Site-wide: 18,968
  • Since beginning of last month:
    • Site-wide: 12,408

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

genomics more details view paper
  • Downloaded 4,930 times
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    • Site-wide: 2,333
    • In genomics: 230
  • Year to date:
    • Site-wide: 48,258
  • Since beginning of last month:
    • Site-wide: 40,425

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

genetics more details view paper
  • Downloaded 3,214 times
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    • Site-wide: 4,283
    • In genetics: 168
  • Year to date:
    • Site-wide: 30,787
  • Since beginning of last month:
    • Site-wide: 7,397

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

genomics more details view paper
  • Downloaded 3,071 times
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    • Site-wide: 4,566
    • In genomics: 482
  • Year to date:
    • Site-wide: 8,978
  • Since beginning of last month:
    • Site-wide: 16,926

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

genetics more details view paper
  • Downloaded 2,570 times
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    • Site-wide: 5,891
    • In genetics: 254
  • Year to date:
    • Site-wide: 22,126
  • Since beginning of last month:
    • Site-wide: 36,465

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

bioinformatics more details view paper
  • Downloaded 2,466 times
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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

genomics more details view paper
  • Downloaded 2,406 times
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    • Site-wide: 6,501
    • In genomics: 701
  • Year to date:
    • Site-wide: 70,156
  • Since beginning of last month:
    • Site-wide: 87,391

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

genetics more details view paper
  • Downloaded 2,328 times
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    • Site-wide: 6,834
    • In genetics: 306
  • Year to date:
    • Site-wide: 103,386
  • Since beginning of last month:
    • Site-wide: 74,095

Biological and clinical insights from genetics of insomnia symptoms

genomics more details view paper
  • Downloaded 2,163 times
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    • Site-wide: 7,598
    • In genomics: 797
  • Year to date:
    • Site-wide: 11,749
  • Since beginning of last month:
    • Site-wide: 10,947

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

genetics more details view paper
  • Downloaded 2,105 times
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    • Site-wide: 7,906
    • In genetics: 350
  • Year to date:
    • Site-wide: 4,947
  • Since beginning of last month:
    • Site-wide: 5,605

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

genomics more details view paper
  • Downloaded 2,103 times
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    • Site-wide: 7,919
    • In genomics: 835
  • Year to date:
    • Site-wide: 137,567
  • Since beginning of last month:
    • Site-wide: 143,079

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

genetics more details view paper
  • Downloaded 1,874 times
  • Download rankings, all-time:
    • Site-wide: 9,407
    • In genetics: 416
  • Year to date:
    • Site-wide: 99,308
  • Since beginning of last month:
    • Site-wide: 116,365

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

hiv aids more details view paper
  • Downloaded 1,498 times
  • Download rankings, all-time:
    • Site-wide: 13,024
    • In hiv aids: 7
  • Year to date:
    • Site-wide: 5,400
  • Since beginning of last month:
    • Site-wide: 4,504

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

genomics more details view paper
  • Downloaded 1,466 times
  • Download rankings, all-time:
    • Site-wide: 13,448
    • In genomics: 1,389
  • Year to date:
    • Site-wide: 38,502
  • Since beginning of last month:
    • Site-wide: 51,216

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,299 times
  • Download rankings, all-time:
    • Site-wide: 16,204
    • In genetics: 761
  • Year to date:
    • Site-wide: 32,925
  • Since beginning of last month:
    • Site-wide: 34,925

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

genetic and genomic medicine more details view paper
  • Downloaded 939 times
  • Download rankings, all-time:
    • Site-wide: 26,086
    • In genetic and genomic medicine: 99
  • Year to date:
    • Site-wide: 3,015
  • Since beginning of last month:
    • Site-wide: 398

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

cardiovascular medicine more details view paper
  • Downloaded 864 times
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    • Site-wide: 29,317
    • In cardiovascular medicine: 46
  • Year to date:
    • Site-wide: 63,785
  • Since beginning of last month:
    • Site-wide: 56,315

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

genetics more details view paper
  • Downloaded 858 times
  • Download rankings, all-time:
    • Site-wide: 29,630
    • In genetics: 1,380
  • Year to date:
    • Site-wide: 74,892
  • Since beginning of last month:
    • Site-wide: 79,743

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

genomics more details view paper
  • Downloaded 852 times
  • Download rankings, all-time:
    • Site-wide: 29,906
    • In genomics: 2,661
  • Year to date:
    • Site-wide: 67,413
  • Since beginning of last month:
    • Site-wide: 99,446

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

genomics more details view paper
  • Downloaded 809 times
  • Download rankings, all-time:
    • Site-wide: 32,157
    • In genomics: 2,816
  • Year to date:
    • Site-wide: 23,105
  • Since beginning of last month:
    • Site-wide: 49,483

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

genomics more details view paper
  • Downloaded 775 times
  • Download rankings, all-time:
    • Site-wide: 34,114
    • In genomics: 2,922
  • Year to date:
    • Site-wide: 84,356
  • Since beginning of last month:
    • Site-wide: 136,953

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

genetics more details view paper
  • Downloaded 770 times
  • Download rankings, all-time:
    • 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

genomics more details view paper
  • Downloaded 769 times
  • Download rankings, all-time:
    • 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

genetics more details view paper
  • Downloaded 748 times
  • Download rankings, all-time:
    • Site-wide: 35,820
    • In genetics: 1,658
  • Year to date:
    • Site-wide: 8,098
  • Since beginning of last month:
    • Site-wide: 19,926

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

genomics more details view paper
  • Downloaded 742 times
  • Download rankings, all-time:
    • Site-wide: 36,247
    • In genomics: 3,055
  • Year to date:
    • Site-wide: 144,101
  • Since beginning of last month:
    • Site-wide: 146,215

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

genetics more details view paper
  • Downloaded 433 times
  • Download rankings, all-time:
    • Site-wide: 69,504
    • In genetics: 3,110
  • Year to date:
    • Site-wide: 100,898
  • Since beginning of last month:
    • Site-wide: 107,173

EDEM3 modulates plasma triglyceride level through its regulation of LRP1 expression

genetics more details view paper
  • Downloaded 406 times
  • Download rankings, all-time:
    • 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

genetic and genomic medicine more details view paper
  • Downloaded 231 times
  • Download rankings, all-time:
    • Site-wide: 111,610
    • In genetic and genomic medicine: 546
  • Year to date:
    • Site-wide: 58,693
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