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Author: Mark Daly

  • ORCiD: http://orcid.org/0000-0002-0949-8752
  • Most recently observed institution: Massachusetts General Program in Medical and Population Genetics, Broad Institute; Analytic and Translational Genetics Unit, Massachusetts General Hospital

Rankings

  • All-time downloads: 283,589 (rank: 268 )
  • Categories:
    • allergy and immunology: 517 (rank: 2,610 (tie) )
    • bioinformatics: 434 (rank: 34,530 (tie) )
    • cardiovascular medicine: 892 (rank: 966 )
    • evolutionary biology: 3,080 (rank: 1,829 (tie) )
    • gastroenterology: 2,049 (rank: 112 (tie) )
    • genetic and genomic medicine: 17,901 (rank: 15 )
    • genetics: 128,838 (rank: 10 )
    • genomics: 108,042 (rank: 108 )
    • immunology: 335 (rank: 34,363 (tie) )
    • neurology: 1,323 (rank: 1,535 (tie) )
    • neuroscience: 647 (rank: 48,745 (tie) )
    • oncology: 999 (rank: 949 (tie) )
    • psychiatry and clinical psychology: 1,068 (rank: 1,677 (tie) )
    • systems biology: 1,051 (rank: 5,394 (tie) )

Downloads per author, site-wide

Preprints

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
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    • Site-wide: 470
    • In genomics: 13
  • Year to date:
    • Site-wide: 32,847
  • Since beginning of last month:
    • Site-wide: 38,348

An Atlas of Genetic Correlations across Human Diseases and Traits

genomics more details view paper
  • Downloaded 15,174 times
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    • Site-wide: 747
    • In genomics: 32
  • Year to date:
    • Site-wide: 14,385
  • Since beginning of last month:
    • Site-wide: 23,557

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

genetics more details view paper
  • Downloaded 12,447 times
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    • Site-wide: 970
    • In genetics: 18
  • Year to date:
    • Site-wide: 7,373
  • Since beginning of last month:
    • Site-wide: 9,680

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,541 times
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    • Site-wide: 1,066
    • In genomics: 61
  • Year to date:
    • Site-wide: 21,739
  • Since beginning of last month:
    • Site-wide: 25,361

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

genetics more details view paper
  • Downloaded 10,877 times
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    • Site-wide: 1,154
    • In genetics: 23
  • Year to date:
    • Site-wide: 13,223
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    • Site-wide: 9,129

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 10,681 times
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    • Site-wide: 1,182
    • In genomics: 77
  • Year to date:
    • Site-wide: 1,709
  • Since beginning of last month:
    • Site-wide: 1,021

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 9,146 times
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    • Site-wide: 1,420
    • In genetics: 28
  • Year to date:
    • Site-wide: 28,385
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    • Site-wide: 24,374

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

genetic and genomic medicine more details view paper
  • Downloaded 8,034 times
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    • Site-wide: 1,692
    • In genetic and genomic medicine: 10
  • Year to date:
    • Site-wide: 678
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    • Site-wide: 2,679

Genetics of 38 blood and urine biomarkers in the UK Biobank

genetics more details view paper
  • Downloaded 7,852 times
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    • Site-wide: 1,725
    • In genetics: 37
  • Year to date:
    • Site-wide: 27,688
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    • Site-wide: 33,646

LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

genomics more details view paper
  • Downloaded 7,344 times
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    • Site-wide: 1,875
    • In genomics: 128
  • Year to date:
    • Site-wide: 65,670
  • Since beginning of last month:
    • Site-wide: 66,435

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,293 times
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    • Site-wide: 1,892
    • In genetics: 44
  • Year to date:
    • Site-wide: 117,707
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    • Site-wide: 147,649

Current clinical use of polygenic scores will risk exacerbating health disparities

genetics more details view paper
  • Downloaded 7,036 times
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    • Site-wide: 1,999
    • In genetics: 47
  • Year to date:
    • Site-wide: 31,968
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    • Site-wide: 23,548

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 5,751 times
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    • Site-wide: 2,618
    • In genetic and genomic medicine: 15
  • Year to date:
    • Site-wide: 979
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    • Site-wide: 352

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 5,467 times
  • Download rankings, all-time:
    • Site-wide: 2,815
    • In genomics: 231
  • Year to date:
    • Site-wide: 25,128
  • Since beginning of last month:
    • Site-wide: 12,823

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

genomics more details view paper
  • Downloaded 5,110 times
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    • Site-wide: 3,090
    • In genomics: 264
  • Year to date:
    • Site-wide: 41,972
  • Since beginning of last month:
    • Site-wide: 58,261

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,076 times
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    • Site-wide: 4,179
    • In genomics: 375
  • Year to date:
    • Site-wide: 67,083
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    • Site-wide: 58,548

Association mapping of inflammatory bowel disease loci to single variant resolution

genetics more details view paper
  • Downloaded 3,744 times
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    • Site-wide: 4,727
    • In genetics: 143
  • Year to date:
    • Site-wide: 113,180
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    • Site-wide: 85,965

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

genetics more details view paper
  • Downloaded 3,703 times
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    • Site-wide: 4,793
    • In genetics: 146
  • Year to date:
    • Site-wide: 94,165
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    • Site-wide: 93,160

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

genetics more details view paper
  • Downloaded 3,533 times
  • Download rankings, all-time:
    • Site-wide: 5,133
    • In genetics: 160
  • Year to date:
    • Site-wide: 129,409
  • Since beginning of last month:
    • Site-wide: 178,403

Genome-wide maps of enhancer regulation connect risk variants to disease genes

genetics more details view paper
  • Downloaded 3,439 times
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    • Site-wide: 5,346
    • In genetics: 181
  • Year to date:
    • Site-wide: 33,548
  • Since beginning of last month:
    • Site-wide: 59,325

Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
  • Downloaded 3,308 times
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    • Site-wide: 5,664
    • In genomics: 511
  • Year to date:
    • Site-wide: 69,636
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    • Site-wide: 58,278

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

genetics more details view paper
  • Downloaded 3,197 times
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    • Site-wide: 5,955
    • In genetics: 211
  • Year to date:
    • Site-wide: 31,513
  • Since beginning of last month:
    • Site-wide: 23,501

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

evolutionary biology more details view paper
  • Downloaded 3,115 times
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    • Site-wide: 6,173
    • In evolutionary biology: 109
  • Year to date:
    • Site-wide: 81,918
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    • Site-wide: 161,611

Bayesian model comparison for rare variant association studies

genetics more details view paper
  • Downloaded 2,994 times
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    • Site-wide: 6,534
    • In genetics: 240
  • Year to date:
    • Site-wide: 33,302
  • Since beginning of last month:
    • Site-wide: 42,193

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 2,794 times
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    • Site-wide: 7,212
    • In genetics: 265
  • Year to date:
    • Site-wide: 104,379
  • Since beginning of last month:
    • Site-wide: 93,158

Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

genomics more details view paper
  • Downloaded 2,792 times
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    • Site-wide: 7,222
    • In genomics: 785
  • Year to date:
    • Site-wide: 4,475
  • Since beginning of last month:
    • Site-wide: 5,758

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

genetics more details view paper
  • Downloaded 2,715 times
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    • Site-wide: 7,528
    • In genetics: None
  • Year to date:
    • Site-wide: 423
  • Since beginning of last month:
    • Site-wide: 1,584

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

genomics more details view paper
  • Downloaded 2,657 times
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    • Site-wide: 7,777
    • In genomics: 703
  • Year to date:
    • Site-wide: 129,880
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    • Site-wide: 174,246

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

genetics more details view paper
  • Downloaded 2,582 times
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    • Site-wide: 8,145
    • In genetics: 303
  • Year to date:
    • Site-wide: 121,244
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    • Site-wide: 129,358

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

genetics more details view paper
  • Downloaded 2,489 times
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    • Site-wide: 8,574
    • In genetics: 324
  • Year to date:
    • Site-wide: 101,433
  • Since beginning of last month:
    • Site-wide: 132,661

Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
  • Downloaded 2,488 times
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    • Site-wide: 8,578
    • In genetics: 330
  • Year to date:
    • Site-wide: 71,138
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    • Site-wide: 72,556

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

genomics more details view paper
  • Downloaded 2,456 times
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    • Site-wide: 8,729
    • In genomics: 817
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    • Site-wide: 42,322
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    • Site-wide: 65,893

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

genetics more details view paper
  • Downloaded 2,417 times
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    • Site-wide: 8,936
    • In genetics: 343
  • Year to date:
    • Site-wide: 125,191
  • Since beginning of last month:
    • Site-wide: 105,519

Population histories of the United States revealed through fine-scale migration and haplotype analysis

genetics more details view paper
  • Downloaded 2,264 times
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    • Site-wide: 9,837
    • In genetics: 368
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    • Site-wide: 94,156
  • Since beginning of last month:
    • Site-wide: 113,759

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

genetics more details view paper
  • Downloaded 2,253 times
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    • Site-wide: 9,893
    • In genetics: 396
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    • Site-wide: 14,912
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    • Site-wide: 15,716

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

genetics more details view paper
  • Downloaded 2,213 times
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    • Site-wide: 10,147
    • In genetics: 409
  • Year to date:
    • Site-wide: 16,188
  • Since beginning of last month:
    • Site-wide: 23,664

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,199 times
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    • Site-wide: 10,248
    • In genetics: 387
  • Year to date:
    • Site-wide: 66,944
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    • Site-wide: 58,249

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
  • Downloaded 2,198 times
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    • Site-wide: 10,263
    • In neurology: 52
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    • Site-wide: 872
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    • Site-wide: 1,044

Analysis across Taiwan Biobank, Biobank Japan and UK Biobank identifies hundreds of novel loci for 36 quantitative traits

genetic and genomic medicine more details view paper
  • Downloaded 2,176 times
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    • Site-wide: 10,424
    • In genetic and genomic medicine: 61
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    • Site-wide: 5,904
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    • Site-wide: 2,678

Reduced expression of COVID-19 host receptor, ACE2 is associated with small bowel inflammation, more severe disease, and response to anti-TNF therapy in Crohn's disease

gastroenterology more details view paper
  • Downloaded 2,093 times
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    • Site-wide: 11,107
    • In gastroenterology: 9
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    • Site-wide: 111,638

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

genetic and genomic medicine more details view paper
  • Downloaded 2,022 times
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    • Site-wide: 11,681
    • In genetic and genomic medicine: 80
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    • Site-wide: 3,694
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    • Site-wide: 5,906

ASD and ADHD have a similar burden of rare protein-truncating variants

genetics more details view paper
  • Downloaded 2,008 times
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    • Site-wide: 11,795
    • In genetics: 444
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    • Site-wide: 69,559
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    • Site-wide: 62,602

Abundant contribution of short tandem repeats to gene expression variation in humans

genomics more details view paper
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    • Site-wide: 12,058
    • In genomics: 1,059
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    • Site-wide: 178,563

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
  • Downloaded 1,928 times
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    • Site-wide: 12,513
    • In genetics: 470
  • Year to date:
    • Site-wide: 153,375
  • Since beginning of last month:
    • Site-wide: 117,784

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

genomics more details view paper
  • Downloaded 1,826 times
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    • Site-wide: 13,548
    • In genomics: 1,249
  • Year to date:
    • Site-wide: 66,500
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    • Site-wide: 61,977

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,817 times
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    • Site-wide: 13,647
    • In genomics: 1,240
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    • Site-wide: 87,814
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    • Site-wide: 130,083

Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
  • Downloaded 1,808 times
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    • Site-wide: 13,731
    • In genetics: 526
  • Year to date:
    • Site-wide: 107,681
  • Since beginning of last month:
    • Site-wide: 93,190

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,726 times
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    • Site-wide: 14,743
    • In genetics: 576
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    • Site-wide: 147,372
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    • Site-wide: 146,057

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
  • Downloaded 1,588 times
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    • Site-wide: 16,750
    • In genetics: 661
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    • Site-wide: 146,490
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    • Site-wide: 185,904

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,563 times
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    • Site-wide: 17,174
    • In genetics: 680
  • Year to date:
    • Site-wide: 163,701
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    • Site-wide: 170,730

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effects

genetics more details view paper
  • Downloaded 1,563 times
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    • Site-wide: 17,177
    • In genetics: 706
  • Year to date:
    • Site-wide: 63,280
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    • Site-wide: 78,489

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,560 times
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    • Site-wide: 17,222
    • In genomics: 1,529
  • Year to date:
    • Site-wide: 107,925
  • Since beginning of last month:
    • Site-wide: 114,577

Set-based rare variant association tests for biobank scale sequencing data sets

genetic and genomic medicine more details view paper
  • Downloaded 1,518 times
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    • Site-wide: 17,963
    • In genetic and genomic medicine: 204
  • Year to date:
    • Site-wide: 2,074
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    • Site-wide: 1,715

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

genetics more details view paper
  • Downloaded 1,511 times
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    • Site-wide: 18,077
    • In genetics: 712
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    • Site-wide: 183,510
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    • Site-wide: 178,417

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,465 times
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    • Site-wide: 18,938
    • In genetics: 795
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    • Site-wide: 63,078
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    • Site-wide: 50,840

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
  • Downloaded 1,406 times
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    • Site-wide: 20,202
    • In genomics: 1,725
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    • Site-wide: 178,916
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    • Site-wide: 189,087

Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation

genetics more details view paper
  • Downloaded 1,379 times
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    • Site-wide: 20,806
    • In genetics: 821
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    • Site-wide: 183,482
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    • Site-wide: 185,988

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
  • Downloaded 1,324 times
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    • Site-wide: 22,191
    • In genomics: 1,878
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    • Site-wide: 133,700
  • Since beginning of last month:
    • Site-wide: 118,962

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

genetics more details view paper
  • Downloaded 1,301 times
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    • Site-wide: 22,792
    • In genetics: 914
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    • Site-wide: 128,816
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    • Site-wide: 104,951

FinnGen: Unique genetic insights from combining isolated population and national health register data

genetic and genomic medicine more details view paper
  • Downloaded 1,282 times
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    • Site-wide: 23,311
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 1,170
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    • Site-wide: 1,293

A genome-wide association study for shared risk across major psychiatric disorders in a nation-wide birth cohort implicates fetal neurodevelopment as a key mediator

genetics more details view paper
  • Downloaded 1,258 times
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    • Site-wide: 24,019
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    • Site-wide: 158,720
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    • Site-wide: 116,830

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
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    • Site-wide: 25,644
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    • Site-wide: 158,914
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    • Site-wide: 161,059

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

genetics more details view paper
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    • Site-wide: 28,009
    • In genetics: 1,219
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    • Site-wide: 39,582
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    • Site-wide: 66,536

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
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    • Site-wide: 28,561
    • In genomics: 2,324
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    • Site-wide: 179,051
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Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

genomics more details view paper
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    • Site-wide: 28,580
    • In genomics: 2,330
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    • Site-wide: 170,874
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    • Site-wide: 141,597

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

genomics more details view paper
  • Downloaded 1,121 times
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    • Site-wide: 28,658
    • In genomics: 2,771
  • Year to date:
    • Site-wide: 12,635
  • Since beginning of last month:
    • Site-wide: 12,851

Epigenetic aging of classical monocytes from healthy individuals

systems biology more details view paper
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    • Site-wide: 29,853
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    • Site-wide: 83,215
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    • Site-wide: 71,006

The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

genetics more details view paper
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    • Site-wide: 30,916
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    • Site-wide: 114,294
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    • Site-wide: 78,819

Polygenic risk, susceptibility genes, and breast cancer over the life course

oncology more details view paper
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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

genetics more details view paper
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    • Site-wide: 121,220
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    • Site-wide: 116,423

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

genetics more details view paper
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    • Site-wide: 35,187
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Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
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Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

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Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

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A platform for case-control matching enables association studies without genotype sharing

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Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans

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Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

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Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups.

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The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

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CCR5-del32 is not deleterious in the homozygous state in humans

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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

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Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity

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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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Novel protective associations with age-related macular degeneration: A common variant near CTRB1 and a rare variant in PELI3

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Meta-analysis of Scandinavian Schizophrenia Exomes

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Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

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Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

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Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

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A method to exploit the structure of genetic ancestry space to enhance case-control studies

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Secretoglobin family 1D member 2 (SCGB1D2) protein inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease

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Prioritization of disease genes from GWAS using ensemble based positive-unlabeled learning

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Leveraging global multi-ancestry meta-analysis in the study of Idiopathic Pulmonary Fibrosis genetics

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Target Gene Notebook: Connecting genetics and drug discovery

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Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

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GWAS meta-analysis and gene expression data link reproductive tract development, immune response and cellular proliferation/apoptosis with cervical cancer and clarify overlap with other cervical phenotypes

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Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention deficit hyperactivity disorder

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Chromosome level genome assembly and annotation of highly invasive Japanese stiltgrass (Microstegium vimineum)

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Polygenic risk score from a multi-ancestry GWAS uncovers susceptibility of heart failure

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Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection

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Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

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Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing

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Functional screen of Inflammatory Bowel Disease genes reveals key epithelial functions

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