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Author: Mark J. Daly

Rankings

  • All-time downloads: 241,426 (rank: 192 )
  • Categories:
    • bioinformatics: 309 (rank: 34,079 (tie) )
    • cardiovascular medicine: 481 (rank: 1,203 (tie) )
    • evolutionary biology: 2,956 (rank: 1,482 (tie) )
    • gastroenterology: 1,906 (rank: 79 (tie) )
    • genetic and genomic medicine: 9,590 (rank: 85 )
    • genetics: 121,344 (rank: 10 )
    • genomics: 102,172 (rank: 105 )
    • immunology: 317 (rank: 26,291 (tie) )
    • oncology: 901 (rank: 749 (tie) )
    • psychiatry and clinical psychology: 509 (rank: 2,299 (tie) )
    • systems biology: 941 (rank: 4,995 (tie) )

Downloads per author, site-wide

Preprints

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

genetic and genomic medicine more details view paper

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

genomics more details view paper
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    • Site-wide: 341
    • In genomics: 13
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An Atlas of Genetic Correlations across Human Diseases and Traits

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    • Site-wide: 538
    • In genomics: 30
  • Year to date:
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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

genetics more details view paper
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    • In genetics: 18
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An open resource of structural variation for medical and population genetics

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

genetics more details view paper
  • Downloaded 10,395 times
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    • Site-wide: 881
    • In genetics: 23
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    • Site-wide: 7,811
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Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
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    • Site-wide: 1,073
    • In genomics: 81
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    • Site-wide: 2,046

Common risk variants identified in autism spectrum disorder

genetics more details view paper
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    • Site-wide: 1,139
    • In genetics: 29
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    • Site-wide: 2,477
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Genetics of 38 blood and urine biomarkers in the UK Biobank

genetics more details view paper
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    • Site-wide: 1,354
    • In genetics: 41
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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

genomics more details view paper
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    • Site-wide: 1,396
    • In genomics: 118
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New mutations, old statistical challenges

genetics more details view paper
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    • Site-wide: 1,402
    • In genetics: 43
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    • Site-wide: 68,189
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Current clinical use of polygenic scores will risk exacerbating health disparities

genetics more details view paper
  • Downloaded 6,697 times
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    • Site-wide: 1,528
    • In genetics: 47
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Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
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    • Site-wide: 2,201
    • In genomics: 206
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Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

genomics more details view paper
  • Downloaded 4,869 times
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    • Site-wide: 2,392
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    • Site-wide: 18,909
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

genetic and genomic medicine more details view paper
  • Downloaded 4,512 times
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    • Site-wide: 2,641
    • In genetic and genomic medicine: 11
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    • Site-wide: 938
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Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
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    • Site-wide: 3,246
    • In genomics: 342
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Association mapping of inflammatory bowel disease loci to single variant resolution

genetics more details view paper
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    • Site-wide: 3,590
    • In genetics: 126
  • Year to date:
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Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

genetics more details view paper
  • Downloaded 3,569 times
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    • Site-wide: 3,695
    • In genetics: 132
  • Year to date:
    • Site-wide: 46,549
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    • Site-wide: 62,448

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

genetics more details view paper
  • Downloaded 3,467 times
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    • Site-wide: 3,830
    • In genetics: 142
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    • Site-wide: 89,055
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Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
  • Downloaded 3,171 times
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    • Site-wide: 4,373
    • In genomics: 457
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Genome-wide maps of enhancer regulation connect risk variants to disease genes

genetics more details view paper
  • Downloaded 3,107 times
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    • Site-wide: 4,495
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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 2,956 times
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    • Site-wide: 4,802
    • In evolutionary biology: 97
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Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

genetics more details view paper
  • Downloaded 2,810 times
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    • Site-wide: 5,183
    • In genetics: 216
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    • Site-wide: 7,445
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    • Site-wide: 5,883

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

genetics more details view paper
  • Downloaded 2,570 times
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    • Site-wide: 5,891
    • In genetics: 254
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    • Site-wide: 22,126
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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 2,552 times
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    • Site-wide: 5,966
    • In genomics: 634
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    • Site-wide: 99,959
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    • Site-wide: 113,046

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

genetics more details view paper
  • Downloaded 2,527 times
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    • Site-wide: 6,056
    • In genetics: 262
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    • Site-wide: 107,946
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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 2,482 times
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    • Site-wide: 6,232
    • In genetic and genomic medicine: 25
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    • Site-wide: 830
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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 2,403 times
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    • Site-wide: 6,517
    • In genetics: 291
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    • Site-wide: 96,432
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Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
  • Downloaded 2,348 times
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    • Site-wide: 6,756
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    • Site-wide: 59,109

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

genetics more details view paper
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    • Site-wide: 6,834
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Bayesian model comparison for rare variant association studies

genetics more details view paper
  • Downloaded 2,281 times
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    • Site-wide: 7,031
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  • Year to date:
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Population histories of the United States revealed through fine-scale migration and haplotype analysis

genetics more details view paper
  • Downloaded 2,159 times
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    • Site-wide: 7,625
    • In genetics: 338
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    • Site-wide: 62,320
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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 2,068 times
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    • Site-wide: 8,094
    • In genetics: 357
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    • Site-wide: 54,990
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Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

genomics more details view paper
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    • Site-wide: 8,339
    • In genomics: 871
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Abundant contribution of short tandem repeats to gene expression variation in humans

genomics more details view paper
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    • Site-wide: 9,146
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    • Site-wide: 88,472

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
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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 1,823 times
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    • Site-wide: 9,781
    • In genetics: 441
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ASD and ADHD have a similar burden of rare protein-truncating variants

genetics more details view paper
  • Downloaded 1,807 times
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    • Site-wide: 9,912
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    • Site-wide: 40,768
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Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

genetics more details view paper
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    • Site-wide: 10,156
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
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    • Site-wide: 10,637
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,681 times
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    • Site-wide: 11,013
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Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
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    • Site-wide: 11,222
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  • Year to date:
    • Site-wide: 100,128
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    • Site-wide: 114,058

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

genomics more details view paper
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    • Site-wide: 11,693
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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
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    • Site-wide: 12,430
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    • Site-wide: 11,643
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Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
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    • Site-wide: 12,438
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    • Site-wide: 130,725
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
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    • Site-wide: 13,225
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    • Site-wide: 100,143
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
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    • Site-wide: 13,318
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    • Site-wide: 106,026

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

genetics more details view paper
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    • Site-wide: 13,435
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    • Site-wide: 89,413
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    • Site-wide: 135,863

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

genomics more details view paper
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    • Site-wide: 13,742
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    • Site-wide: 1,648
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    • Site-wide: 1,687

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

genetics more details view paper
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    • Site-wide: 14,600
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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
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Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation

genetics more details view paper
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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
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    • Site-wide: 16,204
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    • Site-wide: 32,925
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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 1,289 times
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    • Site-wide: 16,375
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    • Site-wide: 1,939
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    • Site-wide: 658

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
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    • Site-wide: 17,592
    • In genomics: 1,731
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    • Site-wide: 90,715
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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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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
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    • Site-wide: 18,505
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    • Site-wide: 99,319
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Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
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The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
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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: 104,157
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    • Site-wide: 112,503

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

genetics 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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Epigenetic aging of classical monocytes from healthy individuals

systems biology more details view paper
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Polygenic risk, susceptibility genes, and breast cancer over the life course

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Schizophrenia risk conferred by protein-coding de novo mutations

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

genetics 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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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
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    • Site-wide: 3,819
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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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The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

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

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

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

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

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

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Target Gene Notebook: Connecting genetics and drug discovery

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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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

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

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