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: 1,202
  • In genomics: 97
• Year to date:
  • Site-wide: 3,936
• Since beginning of last month:
  • Site-wide: 57,857

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

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  • Site-wide: 2,288
  • In genomics: 207
• Year to date:
  • Site-wide: 33,058
• Since beginning of last month:
  • Site-wide: 87,858

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

• Downloaded 4,967 times
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  • Site-wide: 2,438
  • In bioinformatics: 194
• Year to date:
  • Site-wide: 60,469
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  • Site-wide: 15,168

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

• Downloaded 4,806 times
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  • Site-wide: 2,543
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 975
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  • Site-wide: 1,943

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,602 times
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  • Site-wide: 2,698
  • In genetics: 90
• Year to date:
  • Site-wide: 123,215
• Since beginning of last month:
  • Site-wide: 105,688

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

• Downloaded 4,340 times
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  • Site-wide: 2,940
  • In genomics: 297
• Year to date:
  • Site-wide: 8,227
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  • Site-wide: 128,342

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

• Downloaded 2,551 times
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  • Site-wide: 6,232
  • In genetic and genomic medicine: 27
• Year to date:
  • Site-wide: 1,392
• Since beginning of last month:
  • Site-wide: 37,743

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

• Downloaded 2,472 times
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  • Site-wide: 6,530
  • In bioinformatics: 697
• Year to date:
  • Site-wide: 62,765
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  • Site-wide: 17,237

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

• Downloaded 1,964 times
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  • Site-wide: 9,157
  • In genomics: 930
• Year to date:
  • Site-wide: 124,354
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  • Site-wide: None

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

• Downloaded 1,690 times
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  • Site-wide: 11,382
  • In genetics: 505
• Year to date:
  • Site-wide: 92,641
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  • Site-wide: 79,989

emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets

• Downloaded 1,546 times
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  • Site-wide: 12,931
  • In bioinformatics: 1,477
• Year to date:
  • Site-wide: 64,460
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  • Site-wide: None

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

• Downloaded 1,190 times
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  • Site-wide: 19,258
  • In genomics: 1,870
• Year to date:
  • Site-wide: 49,925
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  • Site-wide: 33,729

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

• Downloaded 1,164 times
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  • Site-wide: 19,876
  • In genetics: 912
• Year to date:
  • Site-wide: 104,635
• Since beginning of last month:
  • Site-wide: 103,652

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

• Downloaded 924 times
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  • Site-wide: 27,878
  • In genetic and genomic medicine: 111
• Year to date:
  • Site-wide: 31,064
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  • Site-wide: 43,737

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
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  • Site-wide: 4,474

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

• Downloaded 843 times
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  • Site-wide: 31,692
  • In genomics: 2,765
• Year to date:
  • Site-wide: 117,905
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  • Site-wide: None

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

• Downloaded 799 times
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  • Site-wide: 34,147
  • In genomics: 2,910
• Year to date:
  • Site-wide: 79,007
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  • Site-wide: 38,986

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

• Downloaded 772 times
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  • Site-wide: 35,854
  • In genetics: 1,626
• Year to date:
  • Site-wide: 108,187
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  • Site-wide: 40,808

Heterogeneous transcriptome response to DNA damage at single cell resolution.

• Downloaded 725 times
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  • Site-wide: 39,119
  • In cell biology: 1,551
• Year to date:
  • Site-wide: 54,776
• Since beginning of last month:
  • Site-wide: 117,267

Holistic Characterization of Single Hepatocyte Transcriptome Responses to High Fat Diet

• Downloaded 583 times
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  • Site-wide: 51,816
  • In physiology: 278
• Year to date:
  • Site-wide: 35,828
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  • Site-wide: 18,017

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

• Downloaded 565 times
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  • Site-wide: 53,902
  • In allergy and immunology: 103
• Year to date:
  • Site-wide: 63,313
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  • Site-wide: 54,420

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

• Downloaded 465 times
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  • Site-wide: 67,488
  • In genomics: 4,748
• Year to date:
  • Site-wide: 113,918
• Since beginning of last month:
  • Site-wide: 72,568

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

• Downloaded 387 times
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  • Site-wide: 80,882
  • In genetics: 3,519
• Year to date:
  • Site-wide: 151,486
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  • Site-wide: None

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

• Downloaded 369 times
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  • Site-wide: 84,481
  • In bioinformatics: 7,586
• Year to date:
  • Site-wide: 73,204
• Since beginning of last month:
  • Site-wide: 125,111

FASTQuick: Rapid and comprehensive quality assessment of raw sequence reads

• Downloaded 295 times
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  • Site-wide: 100,652
  • In bioinformatics: 8,619
• Year to date:
  • Site-wide: 137,537
• Since beginning of last month:
  • Site-wide: 93,473

Genetic architectures of proximal and distal colorectal cancer are partly distinct

• Downloaded 283 times
• Download rankings, all-time:
  • Site-wide: 103,548
  • In genetic and genomic medicine: 502
• Year to date:
  • Site-wide: 81,064
• Since beginning of last month:
  • Site-wide: 60,167

Meta-imputation of transcriptome from genotypes across multiple datasets using summary-level data.

• Downloaded 125 times
• Download rankings, all-time:
  • Site-wide: 141,157
  • In genomics: 7,327
• Year to date:
  • Site-wide: 55,565
• Since beginning of last month:
  • Site-wide: 90,526