Author: Namrata Gupta

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Preprints

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

• Downloaded 24,880 times
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  • Site-wide: 314
  • In genomics: 11
• Year to date:
  • Site-wide: 2,975
• Since beginning of last month:
  • Site-wide: 22,793

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

• Downloaded 22,118 times
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  • Site-wide: 360
  • In genomics: 13
• Year to date:
  • Site-wide: 31,297
• Since beginning of last month:
  • Site-wide: 104,632

An open resource of structural variation for medical and population genetics

• Downloaded 11,229 times
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  • Site-wide: 832
  • In genomics: 57
• Year to date:
  • Site-wide: 9,984
• Since beginning of last month:
  • Site-wide: 8,593

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

• Downloaded 3,306 times
• Download rankings, all-time:
  • Site-wide: 4,298
  • In genetic and genomic medicine: 17
• Year to date:
  • Site-wide: 706
• Since beginning of last month:
  • Site-wide: 332

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

• Downloaded 2,582 times
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  • Site-wide: 6,103
  • In genetics: 256
• Year to date:
  • Site-wide: 25,541
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 2,416 times
• Download rankings, all-time:
  • Site-wide: 6,751
  • In genomics: 714
• Year to date:
  • Site-wide: 76,686
• Since beginning of last month:
  • Site-wide: 78,633

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

• Downloaded 2,070 times
• Download rankings, all-time:
  • Site-wide: 8,430
  • In genetics: 369
• Year to date:
  • Site-wide: 65,350
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 1,941 times
• Download rankings, all-time:
  • Site-wide: 9,291
  • In bioinformatics: 1,057
• Year to date:
  • Site-wide: 2,686
• Since beginning of last month:
  • Site-wide: 53,168

The Genetic Landscape of Diamond-Blackfan Anemia

• Downloaded 1,160 times
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  • Site-wide: 19,977
  • In genetics: 915
• Year to date:
  • Site-wide: 107,177
• Since beginning of last month:
  • Site-wide: 49,549

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

• Downloaded 884 times
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  • Site-wide: 29,669
  • In genetics: 1,352
• Year to date:
  • Site-wide: 56,101
• Since beginning of last month:
  • Site-wide: 104,111

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

• Downloaded 848 times
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  • Site-wide: 31,461
  • In genetics: 1,447
• Year to date:
  • Site-wide: 7,471
• Since beginning of last month:
  • Site-wide: 4,474

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

• Downloaded 712 times
• Download rankings, all-time:
  • Site-wide: 40,097
  • In genetics: 1,806
• Year to date:
  • Site-wide: 137,962
• Since beginning of last month:
  • Site-wide: 49,382

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 692 times
• Download rankings, all-time:
  • Site-wide: 41,605
  • In genomics: 3,358
• Year to date:
  • Site-wide: 107,152
• Since beginning of last month:
  • Site-wide: 57,718

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

• Downloaded 459 times
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  • Site-wide: 68,447
  • In genetics: 3,011
• Year to date:
  • Site-wide: 88,812
• Since beginning of last month:
  • Site-wide: 30,268

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

• Downloaded 244 times
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  • Site-wide: 112,925
  • In genetic and genomic medicine: 580
• Year to date:
  • Site-wide: 25,463
• Since beginning of last month:
  • Site-wide: 18,762

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

• Downloaded 57 times
• Download rankings, all-time:
  • Site-wide: 151,627
  • In genetic and genomic medicine: 907
• Year to date:
  • Site-wide: 105,701
• Since beginning of last month:
  • Site-wide: 7,010

Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture

• Downloaded 21 times
• Download rankings, all-time:
  • Site-wide: 153,502
  • In genetics: 5,932
• Year to date:
  • Site-wide: 150,446
• Since beginning of last month:
  • Site-wide: 23,510