Author: Mark Daly

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Preprints

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

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  • Site-wide: 470
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• Year to date:
  • Site-wide: 32,847
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  • Site-wide: 38,348

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 747
  • In genomics: 32
• Year to date:
  • Site-wide: 14,385
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  • Site-wide: 23,557

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

• Downloaded 12,447 times
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  • Site-wide: 970
  • In genetics: 18
• Year to date:
  • Site-wide: 7,373
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  • Site-wide: 9,680

An open resource of structural variation for medical and population genetics

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  • Site-wide: 1,066
  • In genomics: 61
• Year to date:
  • Site-wide: 21,739
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  • Site-wide: 25,361

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

• Downloaded 10,877 times
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  • Site-wide: 1,154
  • In genetics: 23
• Year to date:
  • Site-wide: 13,223
• Since beginning of last month:
  • Site-wide: 9,129

Regional missense constraint improves variant deleteriousness prediction

• 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

• 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

• 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

• 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

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  • Site-wide: 1,875
  • In genomics: 128
• Year to date:
  • Site-wide: 65,670
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  • Site-wide: 66,435

New mutations, old statistical challenges

• 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

• 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

• 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

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  • Site-wide: 2,815
  • In genomics: 231
• Year to date:
  • Site-wide: 25,128
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  • Site-wide: 12,823

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

• Downloaded 5,110 times
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  • Site-wide: 3,090
  • In genomics: 264
• Year to date:
  • Site-wide: 41,972
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  • Site-wide: 58,261

Transcript expression-aware annotation improves rare variant discovery and interpretation

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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

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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

• 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

• Downloaded 3,533 times
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  • Site-wide: 5,133
  • In genetics: 160
• Year to date:
  • Site-wide: 129,409
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  • Site-wide: 178,403

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

• Downloaded 3,439 times
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  • Site-wide: 5,346
  • In genetics: 181
• Year to date:
  • Site-wide: 33,548
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  • Site-wide: 59,325

Human demographic history impacts genetic risk prediction across diverse populations

• 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

• Downloaded 3,197 times
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  • Site-wide: 5,955
  • In genetics: 211
• Year to date:
  • Site-wide: 31,513
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  • Site-wide: 23,501

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

• 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

• Downloaded 2,994 times
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  • Site-wide: 6,534
  • In genetics: 240
• Year to date:
  • Site-wide: 33,302
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  • Site-wide: 42,193

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

• 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

• Downloaded 2,792 times
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  • Site-wide: 7,222
  • In genomics: 785
• Year to date:
  • Site-wide: 4,475
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  • Site-wide: 5,758

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

• 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

• 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

• Downloaded 2,582 times
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  • Site-wide: 8,145
  • In genetics: 303
• Year to date:
  • Site-wide: 121,244
• Since beginning of last month:
  • Site-wide: 129,358

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

• 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

• Downloaded 2,488 times
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  • Site-wide: 8,578
  • In genetics: 330
• Year to date:
  • Site-wide: 71,138
• Since beginning of last month:
  • Site-wide: 72,556

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

• Downloaded 2,456 times
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  • Site-wide: 8,729
  • In genomics: 817
• Year to date:
  • 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

• Downloaded 2,417 times
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  • Site-wide: 8,936
  • In genetics: 343
• Year to date:
  • Site-wide: 125,191
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  • Site-wide: 105,519

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

• Downloaded 2,264 times
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  • Site-wide: 9,837
  • In genetics: 368
• Year to date:
  • Site-wide: 94,156
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  • Site-wide: 113,759

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

• Downloaded 2,253 times
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  • Site-wide: 9,893
  • In genetics: 396
• Year to date:
  • 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

• Downloaded 2,213 times
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  • Site-wide: 10,147
  • In genetics: 409
• Year to date:
  • Site-wide: 16,188
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  • Site-wide: 23,664

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

• 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

• Downloaded 2,198 times
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  • Site-wide: 10,263
  • In neurology: 52
• Year to date:
  • 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

• Downloaded 2,176 times
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  • Site-wide: 10,424
  • In genetic and genomic medicine: 61
• Year to date:
  • 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

• Downloaded 2,093 times
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  • Site-wide: 11,107
  • In gastroenterology: 9
• Year to date:
  • Site-wide: 66,664
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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

• Downloaded 2,022 times
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  • Site-wide: 11,681
  • In genetic and genomic medicine: 80
• Year to date:
  • Site-wide: 3,694
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  • Site-wide: 5,906

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

• Downloaded 2,008 times
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  • Site-wide: 11,795
  • In genetics: 444
• Year to date:
  • Site-wide: 69,559
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  • Site-wide: 62,602

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

• Downloaded 1,978 times
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  • Site-wide: 12,058
  • In genomics: 1,059
• Year to date:
  • Site-wide: 185,131
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  • Site-wide: 178,563

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

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  • Site-wide: 12,513
  • In genetics: 470
• Year to date:
  • Site-wide: 153,375
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  • Site-wide: 117,784

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

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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

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  • Site-wide: 13,647
  • In genomics: 1,240
• Year to date:
  • Site-wide: 87,814
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  • Site-wide: 130,083

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

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  • Site-wide: 13,731
  • In genetics: 526
• Year to date:
  • Site-wide: 107,681
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  • Site-wide: 93,190

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

• Downloaded 1,726 times
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  • Site-wide: 14,743
  • In genetics: 576
• Year to date:
  • 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

• Downloaded 1,588 times
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  • Site-wide: 16,750
  • In genetics: 661
• Year to date:
  • 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

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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

• 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

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  • Site-wide: 17,222
  • In genomics: 1,529
• Year to date:
  • Site-wide: 107,925
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  • Site-wide: 114,577

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

• 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

• Downloaded 1,511 times
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  • Site-wide: 18,077
  • In genetics: 712
• Year to date:
  • Site-wide: 183,510
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  • Site-wide: 178,417

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,465 times
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  • Site-wide: 18,938
  • In genetics: 795
• Year to date:
  • 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

• Downloaded 1,406 times
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  • Site-wide: 20,202
  • In genomics: 1,725
• Year to date:
  • 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

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  • Site-wide: 20,806
  • In genetics: 821
• Year to date:
  • Site-wide: 183,482
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  • Site-wide: 185,988

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

• Downloaded 1,324 times
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  • Site-wide: 22,191
  • In genomics: 1,878
• Year to date:
  • Site-wide: 133,700
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  • Site-wide: 118,962

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

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  • Site-wide: 22,792
  • In genetics: 914
• Year to date:
  • 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

• 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

• Downloaded 1,258 times
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  • Site-wide: 24,019
  • In genetics: 944
• Year to date:
  • 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

• Downloaded 1,206 times
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  • Site-wide: 25,644
  • In genomics: 2,127
• Year to date:
  • Site-wide: 158,914
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  • Site-wide: 161,059

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

• Downloaded 1,139 times
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  • Site-wide: 28,009
  • In genetics: 1,219
• Year to date:
  • Site-wide: 39,582
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  • Site-wide: 66,536

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

• Downloaded 1,124 times
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  • Site-wide: 28,561
  • In genomics: 2,324
• Year to date:
  • Site-wide: 179,051
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  • Site-wide: 160,931

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

• Downloaded 1,123 times
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  • Site-wide: 28,580
  • In genomics: 2,330
• Year to date:
  • 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

• Downloaded 1,121 times
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  • Site-wide: 28,658
  • In genomics: 2,771
• Year to date:
  • Site-wide: 12,635
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  • Site-wide: 12,851

Epigenetic aging of classical monocytes from healthy individuals

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  • Site-wide: 29,853
  • In systems biology: 537
• Year to date:
  • 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

• Downloaded 1,066 times
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  • Site-wide: 30,916
  • In genetics: 1,246
• Year to date:
  • Site-wide: 114,294
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  • Site-wide: 78,819

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

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  • Site-wide: 32,844
  • In oncology: 43
• Year to date:
  • Site-wide: 127,004
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  • Site-wide: 102,958

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

• Downloaded 1,016 times
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  • Site-wide: 33,233
  • In genetics: 1,336
• Year to date:
  • 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

• Downloaded 977 times
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  • Site-wide: 35,187
  • In genetics: 1,435
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  • Site-wide: 73,462
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  • Site-wide: 67,738

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 956 times
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  • Site-wide: 36,362
  • In genetics: 1,439
• Year to date:
  • Site-wide: 146,436
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  • Site-wide: 131,563

Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

• Downloaded 943 times
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  • Site-wide: 37,115
  • In genetic and genomic medicine: 212
• Year to date:
  • Site-wide: 14,810
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  • Site-wide: 20,294

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

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  • Site-wide: 37,841
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 1,896
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  • Site-wide: 1,881

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

• Downloaded 917 times
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  • Site-wide: 38,726
  • In genetics: 1,554
• Year to date:
  • Site-wide: 98,961
• Since beginning of last month:
  • Site-wide: 105,206

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

• Downloaded 907 times
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  • Site-wide: 39,308
  • In genetics: 1,547
• Year to date:
  • Site-wide: 169,084
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  • Site-wide: 143,750

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

• Downloaded 886 times
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  • Site-wide: 40,693
  • In genetics: 1,593
• Year to date:
  • Site-wide: 164,657
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  • Site-wide: 149,464

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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  • Site-wide: 41,746
  • In genomics: 3,764
• Year to date:
  • Site-wide: 22,336
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  • Site-wide: 8,142

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

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  • Site-wide: 42,650
  • In genetics: 1,651
• Year to date:
  • Site-wide: 186,146
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  • Site-wide: 171,672

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

• Downloaded 831 times
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  • Site-wide: 44,728
  • In psychiatry and clinical psychology: 176
• Year to date:
  • Site-wide: 34,940
• Since beginning of last month:
  • Site-wide: 35,702

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

• Downloaded 822 times
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  • Site-wide: 45,507
  • In genetics: 1,750
• Year to date:
  • Site-wide: 183,491
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  • Site-wide: 183,801

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

• Downloaded 797 times
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  • Site-wide: 47,648
  • In neuroscience: 8,166
• Year to date:
  • Site-wide: 14,027
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  • Site-wide: 15,516

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

• Downloaded 781 times
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  • Site-wide: 49,056
  • In genomics: 3,512
• Year to date:
  • Site-wide: 170,582
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  • Site-wide: 141,511

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

• Downloaded 764 times
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  • Site-wide: 50,626
  • In cardiovascular medicine: 100
• Year to date:
  • Site-wide: 39,564
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  • Site-wide: 32,476

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

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  • Site-wide: 50,997
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  • Site-wide: 141,233
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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

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  • Site-wide: 188,164

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

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  • Site-wide: 54,224
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  • Site-wide: 15,362

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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  • Site-wide: 144,899

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

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  • Site-wide: 173,123

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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  • Site-wide: 94,210
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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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  • Site-wide: 29,436

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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