Author: Namrata Gupta

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

• Downloaded 24,382 times
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  • Site-wide: 272
  • In genomics: 10
• Year to date:
  • Site-wide: 2,258
• Since beginning of last month:
  • Site-wide: 2,495

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

• Downloaded 22,018 times
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  • Site-wide: 307
  • In genomics: 11
• Year to date:
  • Site-wide: 23,258
• Since beginning of last month:
  • Site-wide: 18,043

An open resource of structural variation for medical and population genetics

• Downloaded 10,981 times
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  • Site-wide: 709
  • In genomics: 53
• Year to date:
  • Site-wide: 8,977
• Since beginning of last month:
  • Site-wide: 14,041

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

• Downloaded 2,476 times
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  • Site-wide: 5,446
  • In genetics: 253
• Year to date:
  • Site-wide: 17,238
• Since beginning of last month:
  • Site-wide: 22,352

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

• Downloaded 2,370 times
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  • Site-wide: 5,804
  • In genomics: 659
• Year to date:
  • Site-wide: 58,447
• Since beginning of last month:
  • Site-wide: 82,838

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

• Downloaded 2,018 times
• Download rankings, all-time:
  • Site-wide: 7,323
  • In genetics: 348
• Year to date:
  • Site-wide: 47,983
• Since beginning of last month:
  • Site-wide: 69,420

Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit

• Downloaded 1,446 times
• Download rankings, all-time:
  • Site-wide: 12,026
  • In bioinformatics: 1,475
• Year to date:
  • Site-wide: 1,888
• Since beginning of last month:
  • Site-wide: 3,233

The Genetic Landscape of Diamond-Blackfan Anemia

• Downloaded 1,122 times
• Download rankings, all-time:
  • Site-wide: 17,693
  • In genetics: 866
• Year to date:
  • Site-wide: 106,916
• Since beginning of last month:
  • Site-wide: 101,981

Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer's Disease Sequencing Project

• Downloaded 819 times
• Download rankings, all-time:
  • Site-wide: 27,823
  • In genetics: 1,353
• Year to date:
  • Site-wide: 43,709
• Since beginning of last month:
  • Site-wide: 70,393

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

• Downloaded 694 times
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  • Site-wide: 35,070
  • In genetics: 1,681
• Year to date:
  • Site-wide: 117,215
• Since beginning of last month:
  • Site-wide: 108,284

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
• Download rankings, all-time:
  • Site-wide: 36,944
  • In genomics: 3,145
• Year to date:
  • Site-wide: 74,469
• Since beginning of last month:
  • Site-wide: 103,855

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: 40,815
  • In genetics: 1,941
• Year to date:
  • Site-wide: 4,898
• Since beginning of last month:
  • Site-wide: 14,623

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

• Downloaded 410 times
• Download rankings, all-time:
  • Site-wide: 65,007
  • In genetics: 3,002
• Year to date:
  • Site-wide: 88,422
• Since beginning of last month:
  • Site-wide: 100,558