Author: Hyun Min Kang

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Preprints

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

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  • Site-wide: 1,049
  • In genomics: 95
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  • Site-wide: 2,341
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  • Site-wide: 5,676

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

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  • Site-wide: 1,950
  • In genomics: 191
• Year to date:
  • Site-wide: 26,951
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  • Site-wide: 24,037

Multiplexing droplet-based single cell RNA-sequencing using natural genetic barcodes

• Downloaded 4,894 times
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  • Site-wide: 2,058
  • In bioinformatics: 183
• Year to date:
  • Site-wide: 62,716
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  • Site-wide: 71,008

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,588 times
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  • Site-wide: 2,260
  • In genetics: 82
• Year to date:
  • Site-wide: 81,660
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  • Site-wide: 104,328

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

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  • Site-wide: 2,567
  • In genomics: 284
• Year to date:
  • Site-wide: 4,525
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  • Site-wide: 3,530

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

• Downloaded 3,367 times
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  • Site-wide: 3,541
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 1,028
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  • Site-wide: 1,180

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

• Downloaded 2,398 times
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  • Site-wide: 5,767
  • In bioinformatics: 649
• Year to date:
  • Site-wide: 68,665
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  • Site-wide: 84,501

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

• Downloaded 1,947 times
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  • Site-wide: 7,816
  • In genomics: 848
• Year to date:
  • Site-wide: 90,897
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  • Site-wide: 73,365

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

• Downloaded 1,655 times
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  • Site-wide: 9,978
  • In genetics: 477
• Year to date:
  • Site-wide: 72,456
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  • Site-wide: 62,029

emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets

• Downloaded 1,493 times
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  • Site-wide: 11,543
  • In bioinformatics: 1,400
• Year to date:
  • Site-wide: 49,313
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  • Site-wide: 58,248

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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  • Site-wide: 17,420
  • In genetics: 849
• Year to date:
  • Site-wide: 76,167
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  • Site-wide: 71,182

Population-scale study of eRNA transcription reveals bipartite functional enhancer architecture

• Downloaded 1,129 times
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  • Site-wide: 17,650
  • In genomics: 1,807
• Year to date:
  • Site-wide: 35,087
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  • Site-wide: 32,275

Imputation aware tag SNP selection to improve power for multi-ethnic association studies

• Downloaded 822 times
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  • Site-wide: 27,889
  • In genomics: 2,572
• Year to date:
  • Site-wide: 87,716
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  • Site-wide: 72,897

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

• Downloaded 811 times
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  • Site-wide: 28,424
  • In genetic and genomic medicine: 91
• Year to date:
  • Site-wide: 28,450
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  • Site-wide: 25,000

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

• Downloaded 747 times
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  • Site-wide: 31,883
  • In genomics: 2,829
• Year to date:
  • Site-wide: 73,959
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  • Site-wide: 88,720

Integrating Comprehensive Functional Annotations to Boost Power and Accuracy in Gene-Based Association Analysis

• Downloaded 742 times
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  • Site-wide: 32,185
  • In genetics: 1,556
• Year to date:
  • Site-wide: 91,053
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  • Site-wide: 86,279

Heterogeneous transcriptome response to DNA damage at single cell resolution.

• Downloaded 681 times
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  • Site-wide: 36,139
  • In cell biology: 1,448
• Year to date:
  • Site-wide: 33,194
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  • Site-wide: 35,428

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: 41,049
  • In genetics: 1,947
• Year to date:
  • Site-wide: 5,375
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  • Site-wide: 17,873

Novel KITLG regulatory variants are associated with lung function in African American children with asthma

• Downloaded 510 times
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  • Site-wide: 51,779
  • In allergy and immunology: 72
• Year to date:
  • Site-wide: 49,715
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  • Site-wide: 39,397

Holistic Characterization of Single Hepatocyte Transcriptome Responses to High Fat Diet

• Downloaded 463 times
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  • Site-wide: 57,794
  • In physiology: 361
• Year to date:
  • Site-wide: 41,340
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  • Site-wide: 36,363

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

• Downloaded 435 times
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  • Site-wide: 61,690
  • In genomics: 4,497
• Year to date:
  • Site-wide: 102,241
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  • Site-wide: 115,098

Evaluating Mendelian nephrotic syndrome genes for evidence of risk alleles or oligogenicity that explain heritability

• Downloaded 378 times
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  • Site-wide: 70,700
  • In genetics: 3,226
• Year to date:
  • Site-wide: 129,192
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  • Site-wide: 118,276

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

• Downloaded 321 times
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  • Site-wide: 81,309
  • In bioinformatics: 7,423
• Year to date:
  • Site-wide: 58,094
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  • Site-wide: 43,624

FASTQuick: Rapid and comprehensive quality assessment of raw sequence reads

• Downloaded 277 times
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  • Site-wide: 90,577
  • In bioinformatics: 8,004
• Year to date:
  • Site-wide: 118,525
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  • Site-wide: 120,285

Genetic architectures of proximal and distal colorectal cancer are partly distinct

• Downloaded 242 times
• Download rankings, all-time:
  • Site-wide: 98,173
  • In genetic and genomic medicine: 393
• Year to date:
  • Site-wide: 61,907
• Since beginning of last month:
  • Site-wide: 65,953