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Author: Mark J. Daly

  • ORCiD: http://orcid.org/0000-0002-0949-8752
  • Most recently observed institution: Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA

Rankings

  • All-time downloads: 252,011 (rank: 219 )
  • Categories:
    • bioinformatics: 383 (rank: 33,392 (tie) )
    • cardiovascular medicine: 548 (rank: 1,328 (tie) )
    • evolutionary biology: 2,990 (rank: 1,643 (tie) )
    • gastroenterology: 1,967 (rank: 85 (tie) )
    • genetic and genomic medicine: 12,819 (rank: 22 )
    • genetics: 124,824 (rank: 10 )
    • genomics: 104,979 (rank: 106 )
    • immunology: 324 (rank: 29,701 (tie) )
    • neuroscience: 376 (rank: 62,705 (tie) )
    • oncology: 955 (rank: 857 (tie) )
    • psychiatry and clinical psychology: 854 (rank: 1,592 (tie) )
    • systems biology: 992 (rank: 5,157 (tie) )

Downloads per author, site-wide

Preprints

Functional screen of Inflammatory Bowel Disease genes reveals key epithelial functions

genetics more details view paper

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

genomics more details view paper
  • Downloaded 22,187 times
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    • Site-wide: 392
    • In genomics: 13
  • Year to date:
    • Site-wide: 30,149
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    • Site-wide: 64,254

An Atlas of Genetic Correlations across Human Diseases and Traits

genomics more details view paper
  • Downloaded 14,775 times
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    • Site-wide: 633
    • In genomics: 31
  • Year to date:
    • Site-wide: 14,088
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    • Site-wide: 25,116

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

genetics more details view paper
  • Downloaded 11,891 times
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    • Site-wide: 833
    • In genetics: 18
  • Year to date:
    • Site-wide: 3,673
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An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,252 times
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    • Site-wide: 903
    • In genomics: 62
  • Year to date:
    • Site-wide: 12,962
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    • Site-wide: 40,975

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

genetics more details view paper
  • Downloaded 10,531 times
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    • Site-wide: 993
    • In genetics: 23
  • Year to date:
    • Site-wide: 9,208
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    • Site-wide: 16,568

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 9,365 times
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    • Site-wide: 1,141
    • In genomics: 76
  • Year to date:
    • Site-wide: 2,036
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    • Site-wide: 2,998

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,712 times
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    • Site-wide: 1,248
    • In genetics: 29
  • Year to date:
    • Site-wide: 2,986
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Genetics of 38 blood and urine biomarkers in the UK Biobank

genetics more details view paper
  • Downloaded 7,589 times
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    • Site-wide: 1,482
    • In genetics: 38
  • Year to date:
    • Site-wide: 3,057
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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

genomics more details view paper
  • Downloaded 7,245 times
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    • Site-wide: 1,568
    • In genomics: 122
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New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,215 times
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    • Site-wide: 1,577
    • In genetics: 44
  • Year to date:
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Current clinical use of polygenic scores will risk exacerbating health disparities

genetics more details view paper
  • Downloaded 6,807 times
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    • Site-wide: 1,693
    • In genetics: 47
  • Year to date:
    • Site-wide: 14,221
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    • Site-wide: 30,615

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

genetic and genomic medicine more details view paper
  • Downloaded 5,400 times
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    • Site-wide: 2,318
    • In genetic and genomic medicine: 10
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Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 5,244 times
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    • Site-wide: 2,403
    • In genomics: 209
  • Year to date:
    • Site-wide: 8,844
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    • Site-wide: 24,445

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

genomics more details view paper
  • Downloaded 4,952 times
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    • Site-wide: 2,620
    • In genomics: 247
  • Year to date:
    • Site-wide: 22,465
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    • Site-wide: 56,618

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,974 times
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    • Site-wide: 3,551
    • In genomics: 356
  • Year to date:
    • Site-wide: 31,040
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Association mapping of inflammatory bowel disease loci to single variant resolution

genetics more details view paper
  • Downloaded 3,675 times
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    • Site-wide: 3,957
    • In genetics: 134
  • Year to date:
    • Site-wide: 79,725
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    • Site-wide: 126,035

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 3,636 times
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    • Site-wide: 4,007
    • In genetic and genomic medicine: 16
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    • Site-wide: 807
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    • Site-wide: 923

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

genetics more details view paper
  • Downloaded 3,632 times
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    • Site-wide: 4,020
    • In genetics: 136
  • Year to date:
    • Site-wide: 49,680
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    • Site-wide: 50,373

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

genetics more details view paper
  • Downloaded 3,483 times
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    • Site-wide: 4,250
    • In genetics: 148
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    • Site-wide: 113,160
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    • Site-wide: 152,525

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

genetics more details view paper
  • Downloaded 3,243 times
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    • Site-wide: 4,726
    • In genetics: 179
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    • Site-wide: 3,455
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    • Site-wide: 19,281

Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
  • Downloaded 3,212 times
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    • Site-wide: 4,784
    • In genomics: 478
  • Year to date:
    • Site-wide: 58,893
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    • Site-wide: 59,845

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 2,990 times
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    • Site-wide: 5,287
    • In evolutionary biology: 104
  • Year to date:
    • Site-wide: 87,552
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    • Site-wide: 83,459

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

genetics more details view paper
  • Downloaded 2,967 times
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    • Site-wide: 5,343
    • In genetics: 214
  • Year to date:
    • Site-wide: 8,394
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    • Site-wide: 19,901

Bayesian model comparison for rare variant association studies

genetics more details view paper
  • Downloaded 2,731 times
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    • Site-wide: 6,040
    • In genetics: 249
  • Year to date:
    • Site-wide: 11,714
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    • Site-wide: 31,768

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

genetics more details view paper
  • Downloaded 2,655 times
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    • Site-wide: 6,288
    • In genetics: 257
  • Year to date:
    • Site-wide: 25,196
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    • Site-wide: 37,298

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 2,593 times
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    • Site-wide: 6,509
    • In genomics: 664
  • Year to date:
    • Site-wide: 99,340
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    • Site-wide: 82,843

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

genetics more details view paper
  • Downloaded 2,539 times
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    • Site-wide: 6,727
    • In genetics: 280
  • Year to date:
    • Site-wide: 133,351
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

genetics more details view paper
  • Downloaded 2,433 times
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    • Site-wide: 7,146
    • In genetics: 303
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    • Site-wide: 106,558
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    • Site-wide: 104,449

Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
  • Downloaded 2,386 times
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    • Site-wide: 7,353
    • In genetics: 310
  • Year to date:
    • Site-wide: 51,590
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    • Site-wide: 91,047

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

genetics more details view paper
  • Downloaded 2,351 times
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    • Site-wide: 7,506
    • In genetics: 320
  • Year to date:
    • Site-wide: 118,519
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    • Site-wide: 112,655

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

genomics more details view paper
  • Downloaded 2,285 times
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    • Site-wide: 7,838
    • In genomics: 801
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    • Site-wide: 4,771
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    • Site-wide: 10,022

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

genetics more details view paper
  • Downloaded 2,191 times
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    • Site-wide: 8,343
    • In genetics: 352
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    • Site-wide: 75,887
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,098 times
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    • Site-wide: 8,861
    • In genetics: 372
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    • Site-wide: 69,720
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    • Site-wide: 98,509

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 1,967 times
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    • Site-wide: 9,714
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Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

genomics more details view paper
  • Downloaded 1,942 times
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    • Site-wide: 9,902
    • In genomics: 989
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    • Site-wide: 1,785
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Abundant contribution of short tandem repeats to gene expression variation in humans

genomics more details view paper
  • Downloaded 1,936 times
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    • Site-wide: 9,950
    • In genomics: 993
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    • Site-wide: 121,882
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    • Site-wide: 121,250

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

genetics more details view paper
  • Downloaded 1,896 times
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    • Site-wide: 10,263
    • In genetics: 435
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    • Site-wide: 14,374
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    • Site-wide: 23,032

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

genetics more details view paper
  • Downloaded 1,871 times
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    • Site-wide: 10,475
    • In genetics: 450
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
  • Downloaded 1,855 times
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    • Site-wide: 10,628
    • In genetics: 459
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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 1,760 times
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    • Site-wide: 11,498
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    • Site-wide: 10,183
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    • Site-wide: 8,408

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,745 times
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    • Site-wide: 11,647
    • In genomics: 1,171
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    • Site-wide: 96,499
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Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
  • Downloaded 1,725 times
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    • Site-wide: 11,831
    • In genetics: 518
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    • Site-wide: 82,367
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    • Site-wide: 44,753

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

genetics more details view paper
  • Downloaded 1,691 times
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    • Site-wide: 12,175
    • In genetics: 531
  • Year to date:
    • Site-wide: 152,233
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    • Site-wide: 144,799

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

genomics more details view paper
  • Downloaded 1,679 times
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    • Site-wide: 12,307
    • In genomics: 1,236
  • Year to date:
    • Site-wide: 16,568
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    • Site-wide: 51,765

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

genetics more details view paper
  • Downloaded 1,558 times
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    • Site-wide: 13,705
    • In genetics: 605
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    • Site-wide: 147,403
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    • Site-wide: 143,922

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 1,543 times
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    • Site-wide: 13,913
    • In genetic and genomic medicine: 65
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    • Site-wide: 2,433
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    • Site-wide: 6,134

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

genetics more details view paper
  • Downloaded 1,505 times
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    • Site-wide: 14,490
    • In genetics: 645
  • Year to date:
    • Site-wide: 118,836
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    • Site-wide: 112,636

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,495 times
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    • Site-wide: 14,651
    • In genomics: 1,451
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    • Site-wide: 111,377

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

genetics more details view paper
  • Downloaded 1,491 times
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    • Site-wide: 14,728
    • In genetics: 661
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    • Site-wide: 106,593
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    • Site-wide: 112,607

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 1,443 times
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    • Site-wide: 15,503
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    • Site-wide: 72,485

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

genomics more details view paper
  • Downloaded 1,362 times
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    • Site-wide: 16,901
    • In genomics: 1,642
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    • Site-wide: 129,942
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    • Site-wide: 127,146

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,361 times
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    • Site-wide: 16,922
    • In genetics: 758
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    • Site-wide: 38,160
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    • Site-wide: 46,890

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

genetics more details view paper
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    • Site-wide: 17,300
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    • Site-wide: 106,559
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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
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    • Site-wide: 18,976
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    • Site-wide: 100,361
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Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

genetics more details view paper
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    • Site-wide: 96,543
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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 1,212 times
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    • Site-wide: 20,091
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    • Site-wide: 112,783
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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 1,197 times
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    • Site-wide: 20,448
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    • Site-wide: 3,474
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    • Site-wide: 3,501

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: 153,034

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

genomics more details view paper
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    • Site-wide: 23,280
    • In genomics: 2,176
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    • Site-wide: 155,542
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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: 108,474
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The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

genetics more details view paper
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Epigenetic aging of classical monocytes from healthy individuals

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

oncology more details view paper
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Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

genetics more details view paper
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Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
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    • Site-wide: 107,336
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Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans

genetics more details view paper
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Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

genetics more details view paper
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A platform for case-control matching enables association studies without genotype sharing

genetics more details view paper
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Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

genetics more details view paper
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An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

genetics more details view paper
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The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

genetics more details view paper
  • Downloaded 798 times
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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

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

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

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

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

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Meta-analysis of Scandinavian Schizophrenia Exomes

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

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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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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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

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Target Gene Notebook: Connecting genetics and drug discovery

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

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

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

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

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

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

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