Author: Alan R Shuldiner

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Preprints

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

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  • Site-wide: 796
  • In genomics: 34
• Year to date:
  • Site-wide: 8,297
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  • Site-wide: 6,680

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

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  • Site-wide: 3,666
  • In genetic and genomic medicine: 16
• Year to date:
  • Site-wide: 2,868
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  • Site-wide: 2,727

Exome sequencing of 628,388 individuals identifies common and rare variant associations with clonal hematopoiesis phenotypes

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  • Site-wide: 7,200
  • In genetic and genomic medicine: 51
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  • Site-wide: 408
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  • Site-wide: 1,295

Clonal hematopoiesis is driven by aberrant activation of TCL1A

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  • Site-wide: 14,455
  • In genetics: 913
• Year to date:
  • Site-wide: 1,440
• Since beginning of last month:
  • Site-wide: 1,899

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

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  • Site-wide: 14,761
  • In genomics: 1,324
• Year to date:
  • Site-wide: 117,438
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  • Site-wide: 77,200

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn′s Disease

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  • Site-wide: 27,173
  • In genetics: 1,066
• Year to date:
  • Site-wide: 154,458
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  • Site-wide: 160,466

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

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  • Site-wide: 35,070
  • In genomics: 2,745
• Year to date:
  • Site-wide: 153,720
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  • Site-wide: 141,042

Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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  • Site-wide: 53,528
  • In genetics: 2,133
• Year to date:
  • Site-wide: 67,674
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  • Site-wide: 65,815

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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  • Site-wide: 58,356
  • In genetics: 2,233
• Year to date:
  • Site-wide: 160,646
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  • Site-wide: 182,804

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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  • Site-wide: 61,324
  • In genomics: 4,133
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  • Site-wide: 180,128
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  • Site-wide: 140,936

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

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  • Site-wide: 61,587
  • In genetic and genomic medicine: 353
• Year to date:
  • Site-wide: 28,197
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  • Site-wide: 42,611

Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

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  • Site-wide: 66,436
  • In genetics: 2,632
• Year to date:
  • Site-wide: 109,451
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  • Site-wide: 108,978

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

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  • Site-wide: 100,262
  • In genetic and genomic medicine: 572
• Year to date:
  • Site-wide: 72,394
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  • Site-wide: 67,632

Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest US

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  • Site-wide: 121,610
  • In genetics: 4,520
• Year to date:
  • Site-wide: 161,705
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  • Site-wide: 159,477

Genome-wide survey of parent-of-origin specific associations across clinical traits derived from electronic health records

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  • Site-wide: 124,765
  • In genetic and genomic medicine: 717
• Year to date:
  • Site-wide: 161,309
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  • Site-wide: 168,332

Parkinson's disease-related motor and non-motor symptoms are not more prevalent in the Lancaster Amish

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  • Site-wide: 154,576
  • In epidemiology: 6,104
• Year to date:
  • Site-wide: 141,577
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  • Site-wide: 120,403

Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population

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  • Site-wide: 179,117
  • In psychiatry and clinical psychology: 1,192
• Year to date:
  • Site-wide: 30,063
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  • Site-wide: 48,248