Author: Alanna C. Morrison

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Preprints

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

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  • Site-wide: 1,189
  • In genomics: 96
• Year to date:
  • Site-wide: 3,794
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  • Site-wide: 37,073

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 4,440
  • In genetics: 171
• Year to date:
  • Site-wide: 35,608
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  • Site-wide: 76,578

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: 11,299
  • In genetics: 502
• Year to date:
  • Site-wide: 89,289
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  • Site-wide: 61,612

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

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  • Site-wide: 13,508
  • In genetics: 613
• Year to date:
  • Site-wide: 110,311
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  • Site-wide: 77,468

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

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  • Site-wide: 15,815
  • In genetic and genomic medicine: 67
• Year to date:
  • Site-wide: 2,150
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  • Site-wide: 419

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

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  • Site-wide: 17,599
  • In genetics: 818
• Year to date:
  • Site-wide: 62,860
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  • Site-wide: 13,124

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

• Downloaded 924 times
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  • Site-wide: 27,621
  • In genetic and genomic medicine: 109
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  • Site-wide: 29,847
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  • Site-wide: 26,167

Large-scale multivariate multi-ancestry Interaction analyses point towards different genetic mechanisms by population and exposure

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  • Site-wide: 29,861
  • In genetics: 1,367
• Year to date:
  • Site-wide: 55,352
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  • Site-wide: 78,448

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: 30,681
  • In genetics: 1,405
• Year to date:
  • Site-wide: 122,375
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  • Site-wide: 121,271

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: 31,162
  • In genetics: 1,431
• Year to date:
  • Site-wide: 7,199
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  • Site-wide: 2,435

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

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  • Site-wide: 35,264
  • In genomics: 2,979
• Year to date:
  • Site-wide: 114,221
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  • Site-wide: 81,002

ACAT: A Fast and Powerful P-value Combination Method for Rare-variant Analysis in Sequencing Studies

• Downloaded 770 times
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  • Site-wide: 35,644
  • In genetics: 1,614
• Year to date:
  • Site-wide: 83,355
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  • Site-wide: 70,707

GEM: Scalable and flexible gene-environment interaction analysis in millions of samples

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  • Site-wide: 37,750
  • In bioinformatics: 4,074
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  • Site-wide: 16,028
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  • Site-wide: 5,211

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

• Downloaded 698 times
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  • Site-wide: 40,747
  • In hematology: 33
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  • Site-wide: 8,448
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  • Site-wide: 26,682

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 684 times
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  • Site-wide: 41,872
  • In genomics: 3,385
• Year to date:
  • Site-wide: 113,164
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  • Site-wide: 121,857

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

• Downloaded 631 times
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  • Site-wide: 46,526
  • In genetics: 2,080
• Year to date:
  • Site-wide: 122,672
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  • Site-wide: 44,801

Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

• Downloaded 518 times
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  • Site-wide: 59,270
  • In genomics: 4,351
• Year to date:
  • Site-wide: 144,234
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  • Site-wide: None

A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

• Downloaded 499 times
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  • Site-wide: 61,869
  • In genetics: 2,741
• Year to date:
  • Site-wide: 22,574
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  • Site-wide: 26,375

Meta-analysis of exome array data identifies six novel genetic loci for lung function

• Downloaded 483 times
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  • Site-wide: 64,068
  • In genetics: 2,830
• Year to date:
  • Site-wide: 148,550
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  • Site-wide: None

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 460 times
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  • Site-wide: 67,637
  • In genetic and genomic medicine: 279
• Year to date:
  • Site-wide: 23,950
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  • Site-wide: 25,580

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 412 times
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  • Site-wide: 75,701
  • In genetics: 3,303
• Year to date:
  • Site-wide: 103,222
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  • Site-wide: 80,954

Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole Genome Sequencing Studies

• Downloaded 383 times
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  • Site-wide: 80,983
  • In genetics: 3,529
• Year to date:
  • Site-wide: 148,629
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  • Site-wide: 116,761

Efficient gene-environment interaction tests for large biobank-scale sequencing studies

• Downloaded 350 times
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  • Site-wide: 87,653
  • In genetics: 3,797
• Year to date:
  • Site-wide: 64,234
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  • Site-wide: 22,859

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

• Downloaded 327 times
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  • Site-wide: 92,570
  • In genetic and genomic medicine: 420
• Year to date:
  • Site-wide: 16,470
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  • Site-wide: 47,803

Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

• Downloaded 324 times
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  • Site-wide: 93,118
  • In epidemiology: 3,920
• Year to date:
  • Site-wide: 106,703
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  • Site-wide: None

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

• Downloaded 290 times
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  • Site-wide: 100,819
  • In genetic and genomic medicine: 485
• Year to date:
  • Site-wide: 19,451
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  • Site-wide: 33,145

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

• Downloaded 289 times
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  • Site-wide: 101,149
  • In genomics: 6,087
• Year to date:
  • Site-wide: 65,915
• Since beginning of last month:
  • Site-wide: 61,842

Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

• Downloaded 275 times
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  • Site-wide: 104,474
  • In genetics: 4,440
• Year to date:
  • Site-wide: 150,431
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  • Site-wide: None

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

• Downloaded 260 times
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  • Site-wide: 108,050
  • In genetics: 4,587
• Year to date:
  • Site-wide: 22,452
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  • Site-wide: None

BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

• Downloaded 227 times
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  • Site-wide: 116,274
  • In genetic and genomic medicine: 611
• Year to date:
  • Site-wide: 26,933
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  • Site-wide: 40,649

Lifestyle Risk Score for aggregating multiple lifestyle factors: Handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions

• Downloaded 127 times
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  • Site-wide: 139,837
  • In genetics: 5,603
• Year to date:
  • Site-wide: 136,160
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  • Site-wide: 101,628

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

• Downloaded 57 times
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  • Site-wide: 150,596
  • In genetic and genomic medicine: 895
• Year to date:
  • Site-wide: 102,664
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  • Site-wide: 3,892

Multi-omics insights into the biological mechanisms underlying gene-by-lifestyle interactions with smoking and alcohol consumption detected by genome-wide trans-ancestry meta-analysis

• Downloaded 14 times
• Download rankings, all-time:
  • Site-wide: 153,058
  • In epidemiology: 6,315
• Year to date:
  • Site-wide: 152,409
• Since beginning of last month:
  • Site-wide: 91,173