Author: John Blangero

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Preprints

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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  • Site-wide: 1,064
  • In genomics: 95
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  • Site-wide: 2,549
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  • Site-wide: 5,824

The genetic architecture of the human cerebral cortex

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  • Site-wide: 1,098
  • In genetics: 32
• Year to date:
  • Site-wide: 14,316
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  • Site-wide: 21,440

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

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  • Site-wide: 4,408
  • In genomics: 486
• Year to date:
  • Site-wide: 8,189
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  • Site-wide: 12,696

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 9,883
  • In genomics: 1,064
• Year to date:
  • Site-wide: 62,310
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  • Site-wide: 63,037

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

• Downloaded 1,667 times
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  • Site-wide: 10,216
  • In genetics: 480
• Year to date:
  • Site-wide: 70,056
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  • Site-wide: 49,907

Population sequencing data reveal a compendium of mutational processes in human germline

• Downloaded 1,337 times
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  • Site-wide: 14,169
  • In genetics: 684
• Year to date:
  • Site-wide: 19,792
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  • Site-wide: 21,027

A performance assessment of relatedness inference methods using genome-wide data from thousands of relatives

• Downloaded 1,176 times
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  • Site-wide: 17,200
  • In genetics: 828
• Year to date:
  • Site-wide: 77,741
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  • Site-wide: 104,202

Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

• Downloaded 1,170 times
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  • Site-wide: 17,336
  • In genetics: 836
• Year to date:
  • Site-wide: 96,583
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  • Site-wide: 96,201

Genetic variation and gene expression across multiple tissues and developmental stages in a non-human primate

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  • Site-wide: 17,872
  • In genetics: 861
• Year to date:
  • Site-wide: 116,897
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  • Site-wide: 113,243

Inferring identical by descent sharing of sample ancestors promotes high resolution relative detection

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  • Site-wide: 26,632
  • In genetics: 1,270
• Year to date:
  • Site-wide: 94,700
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  • Site-wide: 83,717

Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

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  • Site-wide: 27,804
  • In genetics: 1,337
• Year to date:
  • Site-wide: 100,656
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  • Site-wide: 105,851

Do Candidate Genes Affect the Brain's White Matter Microstructure? Large-Scale Evaluation of 6,165 Diffusion MRI Scans

• Downloaded 836 times
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  • Site-wide: 28,157
  • In neuroscience: 3,729
• Year to date:
  • Site-wide: 104,531
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  • Site-wide: 86,056

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

• Downloaded 824 times
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  • Site-wide: 28,778
  • In genetic and genomic medicine: 91
• Year to date:
  • Site-wide: 32,119
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  • Site-wide: 52,181

Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives

• Downloaded 782 times
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  • Site-wide: 30,940
  • In genetics: 1,487
• Year to date:
  • Site-wide: 80,857
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  • Site-wide: 77,829

Planar cell polarity pathway and development of the human visual cortex

• Downloaded 778 times
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  • Site-wide: 31,184
  • In neuroscience: 4,198
• Year to date:
  • Site-wide: 65,627
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  • Site-wide: 78,014

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

• Downloaded 769 times
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  • Site-wide: 31,670
  • In genomics: 2,822
• Year to date:
  • Site-wide: 60,907
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  • Site-wide: 32,077

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 669 times
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  • Site-wide: 38,282
  • In genomics: 3,215
• Year to date:
  • Site-wide: 89,263
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  • Site-wide: 128,884

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

• Downloaded 658 times
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  • Site-wide: 39,083
  • In genetics: 1,841
• Year to date:
  • Site-wide: 6,228
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  • Site-wide: 20,258

Fast and Powerful Genome Wide Association Analysis of Dense Genetic Data with High Dimensional Imaging Phenotypes

• Downloaded 655 times
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  • Site-wide: 39,397
  • In genetics: 1,855
• Year to date:
  • Site-wide: 105,313
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  • Site-wide: 117,922

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

• Downloaded 563 times
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  • Site-wide: 47,642
  • In hematology: 30
• Year to date:
  • Site-wide: 6,315
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  • Site-wide: 6,844

The reliability and heritability of cortical folds and their genetic correlations across hemispheres

• Downloaded 458 times
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  • Site-wide: 60,259
  • In genetics: 2,762
• Year to date:
  • Site-wide: 64,416
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  • Site-wide: 55,714

Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

• Downloaded 402 times
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  • Site-wide: 68,810
  • In genetics: 3,130
• Year to date:
  • Site-wide: 70,290
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  • Site-wide: 96,484

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

• Downloaded 359 times
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  • Site-wide: 76,496
  • In genetic and genomic medicine: 269
• Year to date:
  • Site-wide: 23,014
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  • Site-wide: 21,282

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

• Downloaded 330 times
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  • Site-wide: 82,113
  • In bioinformatics: 7,485
• Year to date:
  • Site-wide: 61,576
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  • Site-wide: 66,475

Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from South Texas

• Downloaded 229 times
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  • Site-wide: 103,979
  • In cancer biology: 3,149
• Year to date:
  • Site-wide: 31,920
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  • Site-wide: 48,229

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

• Downloaded 215 times
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  • Site-wide: 107,392
  • In genetic and genomic medicine: 481
• Year to date:
  • Site-wide: 14,125
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  • Site-wide: 19,778

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

• Downloaded 196 times
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  • Site-wide: 111,472
  • In genetic and genomic medicine: 511
• Year to date:
  • Site-wide: 15,898
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  • Site-wide: 45,407

find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences

• Downloaded 171 times
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  • Site-wide: 117,267
  • In genomics: 6,525
• Year to date:
  • Site-wide: 55,964
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  • Site-wide: 47,262