Author: Mark Daly

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Preprints

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

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  • Site-wide: 314
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  • Site-wide: 24,226
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  • Site-wide: 21,586

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 497
  • In genomics: 28
• Year to date:
  • Site-wide: 12,819
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  • Site-wide: 19,888

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

• Downloaded 11,376 times
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  • Site-wide: 703
  • In genetics: 18
• Year to date:
  • Site-wide: 2,976
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  • Site-wide: 3,202

An open resource of structural variation for medical and population genetics

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  • Site-wide: 737
  • In genomics: 53
• Year to date:
  • Site-wide: 10,364
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  • Site-wide: 20,658

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

• Downloaded 10,270 times
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  • Site-wide: 812
  • In genetics: 23
• Year to date:
  • Site-wide: 6,758
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  • Site-wide: 11,336

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 8,345 times
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  • Site-wide: 1,055
  • In genomics: 93
• Year to date:
  • Site-wide: 2,425
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  • Site-wide: 1,729

Common risk variants identified in autism spectrum disorder

• Downloaded 8,103 times
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  • Site-wide: 1,091
  • In genetics: 31
• Year to date:
  • Site-wide: 2,476
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  • Site-wide: 2,237

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

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  • Site-wide: 1,272
  • In genomics: 115
• Year to date:
  • Site-wide: 71,881
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  • Site-wide: 72,234

New mutations, old statistical challenges

• Downloaded 7,139 times
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  • Site-wide: 1,280
  • In genetics: 41
• Year to date:
  • Site-wide: 73,791
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  • Site-wide: 83,931

Genetics of 38 blood and urine biomarkers in the UK Biobank

• Downloaded 7,111 times
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  • Site-wide: 1,286
  • In genetics: 42
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  • Site-wide: 2,047
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  • Site-wide: 5,121

Current clinical use of polygenic scores will risk exacerbating health disparities

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  • Site-wide: 1,413
  • In genetics: 47
• Year to date:
  • Site-wide: 10,858
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  • Site-wide: 7,418

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

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  • Site-wide: 2,090
  • In genomics: 206
• Year to date:
  • Site-wide: 6,679
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  • Site-wide: 6,360

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

• Downloaded 4,781 times
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  • Site-wide: 2,222
  • In genomics: 228
• Year to date:
  • Site-wide: 18,602
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  • Site-wide: 35,925

Transcript expression-aware annotation improves rare variant discovery and interpretation

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  • Site-wide: 3,029
  • In genomics: 339
• Year to date:
  • Site-wide: 24,905
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  • Site-wide: 27,803

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

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  • Site-wide: 3,186
  • In genetic and genomic medicine: 11
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  • Site-wide: 1,108

Association mapping of inflammatory bowel disease loci to single variant resolution

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  • Site-wide: 3,311
  • In genetics: 124
• Year to date:
  • Site-wide: 59,519
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  • Site-wide: 72,180

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

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  • Site-wide: 3,429
  • In genetics: 128
• Year to date:
  • Site-wide: 42,065
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  • Site-wide: 30,619

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

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  • Site-wide: 3,540
  • In genetics: 133
• Year to date:
  • Site-wide: 73,755
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  • Site-wide: 88,240

Human demographic history impacts genetic risk prediction across diverse populations

• Downloaded 3,133 times
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  • Site-wide: 4,057
  • In genomics: 453
• Year to date:
  • Site-wide: 44,337
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  • Site-wide: 40,163

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

• Downloaded 2,938 times
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  • Site-wide: 4,421
  • In evolutionary biology: 91
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  • Site-wide: 64,989
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  • Site-wide: 59,845

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

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  • Site-wide: 4,509
  • In genetics: 196
• Year to date:
  • Site-wide: 1,969
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  • Site-wide: 1,309

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

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  • Site-wide: 5,169
  • In genetics: 231
• Year to date:
  • Site-wide: 7,714
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  • Site-wide: 8,635

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

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  • Site-wide: 5,461
  • In genomics: 601
• Year to date:
  • Site-wide: 84,518
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  • Site-wide: 93,563

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

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  • Site-wide: 5,503
  • In genetics: 250
• Year to date:
  • Site-wide: 16,533
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  • Site-wide: 16,217

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

• Downloaded 2,512 times
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  • Site-wide: 5,563
  • In genetics: 253
• Year to date:
  • Site-wide: 101,210
• Since beginning of last month:
  • Site-wide: 113,093

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

• Downloaded 2,387 times
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  • Site-wide: 6,006
  • In genetics: 276
• Year to date:
  • Site-wide: 87,415
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  • Site-wide: 69,445

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 2,326 times
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  • Site-wide: 6,245
  • In genetics: 288
• Year to date:
  • Site-wide: 29,195
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  • Site-wide: 27,836

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

• Downloaded 2,310 times
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  • Site-wide: 6,307
  • In genetics: 293
• Year to date:
  • Site-wide: 101,022
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  • Site-wide: 72,339

Bayesian model comparison for rare variant association studies of multiple phenotypes

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  • Site-wide: 6,489
  • In genetics: 305
• Year to date:
  • Site-wide: 51,433
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  • Site-wide: 83,716

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

• Downloaded 2,137 times
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  • Site-wide: 7,068
  • In genetics: 333
• Year to date:
  • Site-wide: 50,716
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  • Site-wide: 53,329

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

• Downloaded 2,044 times
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  • Site-wide: 7,527
  • In genetics: 345
• Year to date:
  • Site-wide: 44,265
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  • Site-wide: 33,798

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

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  • Site-wide: 8,423
  • In genomics: 905
• Year to date:
  • Site-wide: 105,417
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  • Site-wide: 108,140

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

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  • Site-wide: 8,541
  • In genomics: 920
• Year to date:
  • Site-wide: 3,590
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  • Site-wide: 4,832

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 1,853 times
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  • Site-wide: 8,718
  • In gastroenterology: 7
• Year to date:
  • Site-wide: 26,663
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  • Site-wide: 34,842

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

• Downloaded 1,803 times
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  • Site-wide: 9,097
  • In genetics: 423
• Year to date:
  • Site-wide: 52,545
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  • Site-wide: 50,341

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

• Downloaded 1,757 times
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  • Site-wide: 9,461
  • In genetics: 445
• Year to date:
  • Site-wide: 39,422
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  • Site-wide: 53,752

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 9,883
  • In genomics: 1,064
• Year to date:
  • Site-wide: 62,310
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  • Site-wide: 63,037

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

• Downloaded 1,677 times
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  • Site-wide: 10,131
  • In genetics: 477
• Year to date:
  • Site-wide: 111,615
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  • Site-wide: 133,437

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

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  • Site-wide: 10,319
  • In genetics: 489
• Year to date:
  • Site-wide: 13,478
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  • Site-wide: 12,623

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

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  • Site-wide: 10,335
  • In genetics: 490
• Year to date:
  • Site-wide: 79,997
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  • Site-wide: 113,241

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

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  • Site-wide: 11,258
  • In genomics: 1,203
• Year to date:
  • Site-wide: 8,844
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  • Site-wide: 13,093

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

• Downloaded 1,536 times
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  • Site-wide: 11,502
  • In genetics: 545
• Year to date:
  • Site-wide: 118,832
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  • Site-wide: 113,150

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

• Downloaded 1,468 times
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  • Site-wide: 12,296
  • In genetics: 589
• Year to date:
  • Site-wide: 95,618
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  • Site-wide: 76,385

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 12,299
  • In genomics: 1,323
• Year to date:
  • Site-wide: 76,462
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  • Site-wide: 76,193

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

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  • Site-wide: 12,398
  • In genetics: 599
• Year to date:
  • Site-wide: 68,305
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  • Site-wide: 40,212

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

• Downloaded 1,417 times
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  • Site-wide: 12,987
  • In genetics: 628
• Year to date:
  • Site-wide: 12,043
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  • Site-wide: 8,093

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

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  • Site-wide: 14,360
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  • Site-wide: 45,318
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  • Site-wide: 53,930

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

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  • Site-wide: 14,477
  • In genomics: 1,507
• Year to date:
  • Site-wide: 130,480
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  • Site-wide: 116,572

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

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  • Site-wide: 14,694
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• Year to date:
  • Site-wide: 72,258
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  • Site-wide: 88,160

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 15,825
  • In genetics: 771
• Year to date:
  • Site-wide: 30,991
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  • Site-wide: 39,144

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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  • Site-wide: 16,383
  • In genomics: 1,655
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  • Site-wide: 76,218
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  • Site-wide: 86,588

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

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  • Site-wide: 17,182
  • In genetics: 826
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  • Site-wide: 68,505
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  • Site-wide: 89,487

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

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  • Site-wide: 17,266
  • In genetics: 831
• Year to date:
  • Site-wide: 87,336
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  • Site-wide: 72,401

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

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  • Site-wide: 17,722
  • In genomics: 1,805
• Year to date:
  • Site-wide: 118,430
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  • Site-wide: 93,576

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

• Downloaded 1,081 times
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  • Site-wide: 19,464
  • In genomics: 1,946
• Year to date:
  • Site-wide: 129,149
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  • Site-wide: 116,558

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

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  • Site-wide: 20,980
  • In genomics: 2,079
• Year to date:
  • Site-wide: 97,859
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  • Site-wide: 108,185

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

• Downloaded 969 times
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  • Site-wide: 22,806
  • In genetics: 1,086
• Year to date:
  • Site-wide: 95,988
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  • Site-wide: 119,200

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

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  • Site-wide: 23,991
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  • Site-wide: 73,749
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  • Site-wide: 58,043

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

• Downloaded 906 times
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  • Site-wide: 25,202
  • In genomics: 2,388
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  • Site-wide: 1,820
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  • Site-wide: 348

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

• Downloaded 855 times
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  • Site-wide: 27,320
  • In oncology: 31
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  • Site-wide: 43,301
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  • Site-wide: 48,159

Epigenetic aging of classical monocytes from healthy individuals

• Downloaded 854 times
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  • Site-wide: 27,325
  • In systems biology: 578
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  • Site-wide: 31,372
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  • Site-wide: 34,636

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

• Downloaded 849 times
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  • Site-wide: 27,574
  • In genetics: 1,320
• Year to date:
  • Site-wide: 90,981
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  • Site-wide: 75,688

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 27,614
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  • Site-wide: 87,315
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  • Site-wide: 69,899

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

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  • Site-wide: 27,715
  • In genetics: 1,331
• Year to date:
  • Site-wide: 136,479
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  • Site-wide: 128,288

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

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  • Site-wide: 28,799
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  • Site-wide: 136,498
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  • Site-wide: 133,471

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

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  • Site-wide: 31,044
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  • Site-wide: 81,006
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  • Site-wide: 104,203

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

• Downloaded 757 times
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  • Site-wide: 32,346
  • In genetics: 1,540
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  • Site-wide: 36,318
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  • Site-wide: 26,451

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

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  • Site-wide: 33,298
  • In genomics: 2,916
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  • Site-wide: 126,572
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  • Site-wide: 133,721

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

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  • Site-wide: 33,507
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  • Site-wide: 36,898
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  • Site-wide: 33,929

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

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  • Site-wide: 36,261
  • In genetics: 1,714
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  • Site-wide: 123,243
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  • Site-wide: 108,004

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

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  • Site-wide: 36,345
  • In genetics: 1,720
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  • Site-wide: 21,242
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  • Site-wide: 28,160

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

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  • Site-wide: 38,150
  • In genetics: 1,799
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  • Site-wide: 88,687
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  • Site-wide: 114,583

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: 40,279
  • In genetics: 1,894
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  • Site-wide: 101,077
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  • Site-wide: 96,326

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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  • Site-wide: 40,322
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  • Site-wide: 111,169

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

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  • Site-wide: 45,487
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  • Site-wide: 63,004

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

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  • Site-wide: 45,652
  • In genetics: 2,120
• Year to date:
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  • Site-wide: 108,055

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

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  • Site-wide: 51,356
  • In genetic and genomic medicine: 175
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  • Site-wide: 3,915
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  • Site-wide: 694

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

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  • Site-wide: 55,169
  • In genomics: 4,198
• Year to date:
  • Site-wide: 122,624
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  • Site-wide: 88,460

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

• Downloaded 488 times
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  • Site-wide: 56,327
  • In genomics: 4,254
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  • Site-wide: 10,380
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  • Site-wide: 14,015

Meta-analysis of Scandinavian Schizophrenia Exomes

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  • Site-wide: 60,426
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  • Site-wide: 61,381

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

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  • Site-wide: 64,819
  • In cardiovascular medicine: 95
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  • Site-wide: 34,422
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  • Site-wide: 82,057

Target Gene Notebook: Connecting genetics and drug discovery

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  • Site-wide: 78,059
  • In genomics: 5,205
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  • Site-wide: 124,941
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  • Site-wide: 81,520

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

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  • Site-wide: 79,066
  • In genetics: 3,573
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  • Site-wide: 105,333
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  • Site-wide: 133,500

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

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  • Site-wide: 83,487
  • In genetic and genomic medicine: 317
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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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