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Author: M. Daly

Rankings

  • All-time downloads: 219,001 (rank: 213 )
  • Categories:
    • bioinformatics: 195 (rank: 34,292 (tie) )
    • cardiovascular medicine: 331 (rank: 1,119 (tie) )
    • evolutionary biology: 2,892 (rank: 1,251 (tie) )
    • gastroenterology: 1,734 (rank: 45 (tie) )
    • genetic and genomic medicine: 3,632 (rank: 145 )
    • genetics: 112,814 (rank: 11 )
    • genomics: 95,565 (rank: 97 )
    • immunology: 301 (rank: 20,072 (tie) )
    • oncology: 777 (rank: 508 (tie) )
    • systems biology: 760 (rank: 5,196 (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: 274
    • In genomics: 11
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    • Site-wide: 31,640

An Atlas of Genetic Correlations across Human Diseases and Traits

genomics more details view paper
  • Downloaded 14,333 times
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    • Site-wide: 425
    • In genomics: 27
  • Year to date:
    • Site-wide: 10,003
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    • Site-wide: 12,278

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 10,797 times
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    • Site-wide: 623
    • In genomics: 50
  • Year to date:
    • Site-wide: 5,346
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    • Site-wide: 7,367

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

genetics more details view paper
  • Downloaded 10,794 times
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    • Site-wide: 624
    • In genetics: 18
  • Year to date:
    • Site-wide: 3,942
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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 9,959 times
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    • Site-wide: 703
    • In genetics: 22
  • Year to date:
    • Site-wide: 3,992
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    • Site-wide: 3,333

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 7,664 times
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    • Site-wide: 988
    • In genomics: 96
  • Year to date:
    • Site-wide: 3,402
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    • Site-wide: 2,647

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 7,467 times
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    • Site-wide: 1,025
    • In genetics: 35
  • Year to date:
    • Site-wide: 1,835
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    • Site-wide: 2,763

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

genomics more details view paper
  • Downloaded 7,142 times
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    • Site-wide: 1,086
    • In genomics: 113
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New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,099 times
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    • Site-wide: 1,097
    • In genetics: 40
  • Year to date:
    • Site-wide: 97,088
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    • Site-wide: 49,373

Current clinical use of polygenic scores will risk exacerbating health disparities

genetics more details view paper
  • Downloaded 6,376 times
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    • Site-wide: 1,233
    • In genetics: 46
  • Year to date:
    • Site-wide: 6,780
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    • Site-wide: 11,484

Genetics of 38 blood and urine biomarkers in the UK Biobank

genetics more details view paper
  • Downloaded 6,349 times
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    • Site-wide: 1,247
    • In genetics: 48
  • Year to date:
    • Site-wide: 2,440
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    • Site-wide: 2,490

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

genomics more details view paper
  • Downloaded 4,651 times
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    • Site-wide: 1,912
    • In genomics: 215
  • Year to date:
    • Site-wide: 4,515
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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 4,649 times
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    • Site-wide: 1,914
    • In genomics: 216
  • Year to date:
    • Site-wide: 5,590
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Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,739 times
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    • Site-wide: 2,620
    • In genomics: 320
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    • Site-wide: 6,611
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    • Site-wide: 26,887

Association mapping of inflammatory bowel disease loci to single variant resolution

genetics more details view paper
  • Downloaded 3,570 times
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    • Site-wide: 2,820
    • In genetics: 118
  • Year to date:
    • Site-wide: 36,053
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    • Site-wide: 44,388

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

genetics more details view paper
  • Downloaded 3,457 times
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    • Site-wide: 2,950
    • In genetics: 125
  • Year to date:
    • Site-wide: 35,109
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    • Site-wide: 39,782

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

genetics more details view paper
  • Downloaded 3,421 times
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    • Site-wide: 2,998
    • In genetics: 130
  • Year to date:
    • Site-wide: 32,699
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    • Site-wide: 66,011

Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
  • Downloaded 3,062 times
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    • Site-wide: 3,533
    • In genomics: 419
  • Year to date:
    • Site-wide: 44,470
  • Since beginning of last month:
    • Site-wide: 107,350

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 2,892 times
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    • Site-wide: 3,801
    • In evolutionary biology: 85
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    • Site-wide: 54,161

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 2,514 times
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    • Site-wide: 4,657
    • In genomics: 560
  • Year to date:
    • Site-wide: 41,670
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    • Site-wide: 29,897

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

genetics more details view paper
  • Downloaded 2,489 times
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    • Site-wide: 4,735
    • In genetics: 230
  • Year to date:
    • Site-wide: 82,367
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    • Site-wide: 97,148

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

genetic and genomic medicine more details view paper
  • Downloaded 2,380 times
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    • Site-wide: 5,081
    • In genetic and genomic medicine: 12
  • Year to date:
    • Site-wide: 1,100
  • Since beginning of last month:
    • Site-wide: 1,396

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

genetics more details view paper
  • Downloaded 2,369 times
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    • Site-wide: 5,115
    • In genetics: 247
  • Year to date:
    • Site-wide: 8,094
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    • Site-wide: 14,196

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

genetics more details view paper
  • Downloaded 2,360 times
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    • Site-wide: 5,144
    • In genetics: 249
  • Year to date:
    • Site-wide: 53,950
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    • Site-wide: 83,052

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

genetics more details view paper
  • Downloaded 2,331 times
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    • Site-wide: 5,248
    • In genetics: 255
  • Year to date:
    • Site-wide: 9,622
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    • Site-wide: 6,985

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

genetics more details view paper
  • Downloaded 2,284 times
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    • Site-wide: 5,409
    • In genetics: 269
  • Year to date:
    • Site-wide: 110,742
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    • Site-wide: 92,652

Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
  • Downloaded 2,228 times
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    • Site-wide: 5,609
    • In genetics: 278
  • Year to date:
    • Site-wide: 13,653
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    • Site-wide: 21,113

Bayesian model comparison for rare variant association studies of multiple phenotypes

genetics more details view paper
  • Downloaded 2,207 times
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    • Site-wide: 5,686
    • In genetics: 281
  • Year to date:
    • Site-wide: 34,410
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    • Site-wide: 30,758

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

genetics more details view paper
  • Downloaded 2,122 times
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    • Site-wide: 5,999
    • In genetics: 302
  • Year to date:
    • Site-wide: 2,140
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    • Site-wide: 2,457

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

genetics more details view paper
  • Downloaded 2,080 times
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    • Site-wide: 6,179
    • In genetics: 310
  • Year to date:
    • Site-wide: 32,902
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    • Site-wide: 40,030

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

genetics more details view paper
  • Downloaded 1,979 times
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    • Site-wide: 6,629
    • In genetics: 334
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    • Site-wide: 24,015
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    • Site-wide: 37,221

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

genomics more details view paper
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    • Site-wide: 7,197
    • In genomics: 817
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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 1,756 times
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    • Site-wide: 7,923
    • In genetics: 399
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    • Site-wide: 15,725
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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 1,734 times
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    • Site-wide: 8,091
    • In gastroenterology: 5
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    • Site-wide: 20,866

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

genetics more details view paper
  • Downloaded 1,685 times
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    • Site-wide: 8,463
    • In genetics: 431
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    • Site-wide: 18,211
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,660 times
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    • Site-wide: 8,671
    • In genomics: 1,006
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,657 times
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    • Site-wide: 8,690
    • In genetics: 444
  • Year to date:
    • Site-wide: 99,480
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    • Site-wide: 98,854

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

genetics more details view paper
  • Downloaded 1,615 times
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    • Site-wide: 9,048
    • In genetics: 460
  • Year to date:
    • Site-wide: 117,782
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    • Site-wide: 53,892

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

genetics more details view paper
  • Downloaded 1,522 times
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    • Site-wide: 9,881
    • In genetics: 499
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    • Site-wide: 86,821

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

genetics more details view paper
  • Downloaded 1,455 times
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    • Site-wide: 10,512
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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
  • Downloaded 1,442 times
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    • Site-wide: 10,670
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,431 times
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An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

genetics more details view paper
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    • Site-wide: 10,946
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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: 12,022
    • In genomics: 1,349
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    • Site-wide: 20,061
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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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    • Site-wide: 12,373
    • In genomics: 1,382
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    • Site-wide: 109,663

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: 12,413
    • In genomics: 1,386
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    • Site-wide: 4,560
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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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    • Site-wide: 12,883
    • In genetics: 661
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    • Site-wide: 27,551
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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 1,260 times
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    • Site-wide: 13,103
    • In genetics: 680
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    • Site-wide: 35,592
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    • Site-wide: 28,535

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 1,193 times
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    • Site-wide: 14,202
    • In genetics: 740
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    • Site-wide: 16,916
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    • Site-wide: 23,900

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
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    • Site-wide: 14,496
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    • Site-wide: 82,903
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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 1,146 times
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    • Site-wide: 15,084
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    • Site-wide: 54,242
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    • Site-wide: 80,915

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
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    • Site-wide: 15,200
    • In genetics: 789
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    • Site-wide: 36,715
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    • Site-wide: 19,088

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: 73,132

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: 37,103
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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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    • Site-wide: 16,863
    • In genomics: 1,782
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    • Site-wide: 122,341
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    • Site-wide: 109,213

A global atlas of genetic associations of 220 deep phenotypes

genetic and genomic medicine more details view paper
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    • Site-wide: 17,999
    • In genetic and genomic medicine: 48
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    • Site-wide: 7,675
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    • Site-wide: 7,257

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: 18,484
    • In genomics: 1,931
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    • Site-wide: 75,719
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    • Site-wide: 92,064

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

genetics more details view paper
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    • Site-wide: 20,164
    • In genetics: 1,013
  • Year to date:
    • Site-wide: 94,763
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    • Site-wide: 79,175

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

genetics more details view paper
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    • Site-wide: 21,650
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    • Site-wide: 74,772
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    • Site-wide: 61,105

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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    • Site-wide: 24,045
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    • Site-wide: None
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Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
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    • Site-wide: 67,934
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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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    • Site-wide: 118,594
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    • Site-wide: 104,354

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

genetics more details view paper
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    • Site-wide: 118,038
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Polygenic risk, susceptibility genes, and breast cancer over the life course

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

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

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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    • Site-wide: 32,595
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    • Site-wide: 35,183
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    • Site-wide: 39,884

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

genetics more details view paper
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    • Site-wide: 34,155
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    • Site-wide: 74,065
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CCR5-del32 is not deleterious in the homozygous state in humans

genetics more details view paper
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    • Site-wide: 55,059
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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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

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

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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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Meta-analysis of Scandinavian Schizophrenia Exomes

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Target Gene Notebook: Connecting genetics and drug discovery

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

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

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

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