Author: M. Daly

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Preprints

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

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  • Site-wide: 274
  • In genomics: 11
• Year to date:
  • Site-wide: 21,201
• Since beginning of last month:
  • Site-wide: 31,640

An Atlas of Genetic Correlations across Human Diseases and Traits

• 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

• Downloaded 10,797 times
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  • Site-wide: 623
  • In genomics: 50
• Year to date:
  • Site-wide: 5,346
• Since beginning of last month:
  • Site-wide: 7,367

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

• Downloaded 10,794 times
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  • Site-wide: 624
  • In genetics: 18
• Year to date:
  • Site-wide: 3,942
• Since beginning of last month:
  • Site-wide: 7,591

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

• Downloaded 9,959 times
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  • Site-wide: 703
  • In genetics: 22
• Year to date:
  • Site-wide: 3,992
• Since beginning of last month:
  • Site-wide: 3,333

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 7,664 times
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  • Site-wide: 988
  • In genomics: 96
• Year to date:
  • Site-wide: 3,402
• Since beginning of last month:
  • Site-wide: 2,647

Common risk variants identified in autism spectrum disorder

• 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

• Downloaded 7,142 times
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  • Site-wide: 1,086
  • In genomics: 113
• Year to date:
  • Site-wide: 79,231
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  • Site-wide: 35,785

New mutations, old statistical challenges

• Downloaded 7,099 times
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  • Site-wide: 1,097
  • In genetics: 40
• Year to date:
  • Site-wide: 97,088
• Since beginning of last month:
  • Site-wide: 49,373

Current clinical use of polygenic scores will risk exacerbating health disparities

• 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

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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

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  • Site-wide: 1,912
  • In genomics: 215
• Year to date:
  • Site-wide: 4,515
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  • Site-wide: 6,250

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

• 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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  • Site-wide: 13,309

Transcript expression-aware annotation improves rare variant discovery and interpretation

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  • Site-wide: 2,620
  • In genomics: 320
• Year to date:
  • Site-wide: 6,611
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  • Site-wide: 26,887

Association mapping of inflammatory bowel disease loci to single variant resolution

• 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

• 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

• 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

• Downloaded 3,062 times
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  • Site-wide: 3,533
  • In genomics: 419
• Year to date:
  • Site-wide: 44,470
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  • Site-wide: 107,350

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

• Downloaded 2,892 times
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  • Site-wide: 3,801
  • In evolutionary biology: 85
• Year to date:
  • Site-wide: 70,567
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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

• 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

• Downloaded 2,489 times
• Download rankings, all-time:
  • Site-wide: 4,735
  • In genetics: 230
• Year to date:
  • Site-wide: 82,367
• Since beginning of last month:
  • Site-wide: 97,148

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

• Downloaded 2,380 times
• Download rankings, all-time:
  • Site-wide: 5,081
  • In genetic and genomic medicine: 12
• Year to date:
  • Site-wide: 1,100
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  • Site-wide: 1,396

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

• 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

• Downloaded 2,360 times
• Download rankings, all-time:
  • Site-wide: 5,144
  • In genetics: 249
• Year to date:
  • Site-wide: 53,950
• Since beginning of last month:
  • Site-wide: 83,052

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

• Downloaded 2,331 times
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  • Site-wide: 5,248
  • In genetics: 255
• Year to date:
  • Site-wide: 9,622
• Since beginning of last month:
  • Site-wide: 6,985

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

• Downloaded 2,284 times
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  • Site-wide: 5,409
  • In genetics: 269
• Year to date:
  • Site-wide: 110,742
• Since beginning of last month:
  • Site-wide: 92,652

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 2,228 times
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  • Site-wide: 5,609
  • In genetics: 278
• Year to date:
  • Site-wide: 13,653
• Since beginning of last month:
  • Site-wide: 21,113

Bayesian model comparison for rare variant association studies of multiple phenotypes

• Downloaded 2,207 times
• Download rankings, all-time:
  • Site-wide: 5,686
  • In genetics: 281
• Year to date:
  • Site-wide: 34,410
• Since beginning of last month:
  • Site-wide: 30,758

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

• Downloaded 2,122 times
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  • Site-wide: 5,999
  • In genetics: 302
• Year to date:
  • Site-wide: 2,140
• Since beginning of last month:
  • Site-wide: 2,457

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

• Downloaded 2,080 times
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  • Site-wide: 6,179
  • In genetics: 310
• Year to date:
  • Site-wide: 32,902
• Since beginning of last month:
  • Site-wide: 40,030

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

• Downloaded 1,979 times
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  • Site-wide: 6,629
  • In genetics: 334
• Year to date:
  • Site-wide: 24,015
• Since beginning of last month:
  • Site-wide: 37,221

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

• Downloaded 1,875 times
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  • Site-wide: 7,197
  • In genomics: 817
• Year to date:
  • Site-wide: 95,332
• Since beginning of last month:
  • Site-wide: 92,561

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

• Downloaded 1,756 times
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  • Site-wide: 7,923
  • In genetics: 399
• Year to date:
  • Site-wide: 15,725
• Since beginning of last month:
  • Site-wide: 40,739

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 1,734 times
• Download rankings, all-time:
  • Site-wide: 8,091
  • In gastroenterology: 5
• Year to date:
  • Site-wide: 32,784
• Since beginning of last month:
  • Site-wide: 20,866

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

• Downloaded 1,685 times
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  • Site-wide: 8,463
  • In genetics: 431
• Year to date:
  • Site-wide: 18,211
• Since beginning of last month:
  • Site-wide: 65,068

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,660 times
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  • Site-wide: 8,671
  • In genomics: 1,006
• Year to date:
  • Site-wide: 52,218
• Since beginning of last month:
  • Site-wide: 42,481

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

• Downloaded 1,657 times
• Download rankings, all-time:
  • Site-wide: 8,690
  • In genetics: 444
• Year to date:
  • Site-wide: 99,480
• Since beginning of last month:
  • Site-wide: 98,854

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

• Downloaded 1,615 times
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  • Site-wide: 9,048
  • In genetics: 460
• Year to date:
  • Site-wide: 117,782
• Since beginning of last month:
  • Site-wide: 53,892

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

• Downloaded 1,522 times
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  • Site-wide: 9,881
  • In genetics: 499
• Year to date:
  • Site-wide: 73,346
• Since beginning of last month:
  • Site-wide: 86,821

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

• Downloaded 1,455 times
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  • Site-wide: 10,512
  • In genetics: 531
• Year to date:
  • Site-wide: 11,912
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  • Site-wide: 18,054

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

• Downloaded 1,442 times
• Download rankings, all-time:
  • Site-wide: 10,670
  • In genetics: 542
• Year to date:
  • Site-wide: 74,727
• Since beginning of last month:
  • Site-wide: 62,628

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,431 times
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  • Site-wide: 10,808
  • In genomics: 1,227
• Year to date:
  • Site-wide: 68,502
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  • Site-wide: 103,093

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

• Downloaded 1,419 times
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  • Site-wide: 10,946
  • In genetics: 557
• Year to date:
  • Site-wide: 47,451
• Since beginning of last month:
  • Site-wide: 98,104

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

• Downloaded 1,334 times
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  • Site-wide: 12,022
  • In genomics: 1,349
• Year to date:
  • Site-wide: 20,061
• Since beginning of last month:
  • Site-wide: 9,048

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

• Downloaded 1,308 times
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  • Site-wide: 12,373
  • In genomics: 1,382
• Year to date:
  • Site-wide: 92,962
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  • Site-wide: 109,663

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

• Downloaded 1,306 times
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  • Site-wide: 12,413
  • In genomics: 1,386
• Year to date:
  • Site-wide: 4,560
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  • Site-wide: 7,145

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

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  • Site-wide: 12,883
  • In genetics: 661
• Year to date:
  • Site-wide: 27,551
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  • Site-wide: 105,237

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

• Downloaded 1,260 times
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  • Site-wide: 13,103
  • In genetics: 680
• Year to date:
  • 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

• Downloaded 1,193 times
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  • Site-wide: 14,202
  • In genetics: 740
• Year to date:
  • Site-wide: 16,916
• Since beginning of last month:
  • Site-wide: 23,900

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

• Downloaded 1,177 times
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  • Site-wide: 14,496
  • In genomics: 1,564
• Year to date:
  • Site-wide: 82,903
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  • Site-wide: 82,381

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 1,146 times
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  • Site-wide: 15,084
  • In genetics: 784
• Year to date:
  • Site-wide: 54,242
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  • Site-wide: 80,915

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,141 times
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  • Site-wide: 15,200
  • In genetics: 789
• Year to date:
  • 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

• Downloaded 1,138 times
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  • Site-wide: 15,243
  • In genomics: 1,654
• Year to date:
  • Site-wide: 63,551
• Since beginning of last month:
  • Site-wide: 73,132

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

• Downloaded 1,138 times
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  • Site-wide: 15,246
  • In genetics: 792
• Year to date:
  • Site-wide: 37,103
• Since beginning of last month:
  • Site-wide: 59,583

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

• Downloaded 1,066 times
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  • Site-wide: 16,863
  • In genomics: 1,782
• Year to date:
  • Site-wide: 122,341
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  • Site-wide: 109,213

A global atlas of genetic associations of 220 deep phenotypes

• Downloaded 1,020 times
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  • Site-wide: 17,999
  • In genetic and genomic medicine: 48
• Year to date:
  • 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

• Downloaded 1,003 times
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  • Site-wide: 18,484
  • In genomics: 1,931
• Year to date:
  • Site-wide: 75,719
• Since beginning of last month:
  • Site-wide: 92,064

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

• Downloaded 943 times
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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

• Downloaded 898 times
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  • Site-wide: 21,650
  • In genetics: 1,087
• Year to date:
  • 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

• Downloaded 836 times
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  • Site-wide: 24,045
  • In genetics: 1,211
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 110,985

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 819 times
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  • Site-wide: 24,727
  • In genetics: 1,243
• Year to date:
  • Site-wide: 67,934
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  • Site-wide: 72,881

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

• Downloaded 818 times
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  • Site-wide: 24,766
  • In genetics: 1,251
• Year to date:
  • Site-wide: 118,594
• Since beginning of last month:
  • Site-wide: 104,354

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

• Downloaded 814 times
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  • Site-wide: 24,957
  • In genetics: 1,264
• Year to date:
  • Site-wide: 118,038
• Since beginning of last month:
  • Site-wide: 85,575

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

• Downloaded 777 times
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  • Site-wide: 26,626
  • In oncology: 25
• Year to date:
  • Site-wide: 93,925
• Since beginning of last month:
  • Site-wide: 17,165

Epigenetic aging of classical monocytes from healthy individuals

• Downloaded 760 times
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  • Site-wide: 27,442
  • In systems biology: 616
• Year to date:
  • Site-wide: 17,196
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  • Site-wide: 16,552

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

• Downloaded 755 times
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  • Site-wide: 27,671
  • In genetics: 1,396
• Year to date:
  • Site-wide: 26,932
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  • Site-wide: 75,126

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

• Downloaded 731 times
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  • Site-wide: 28,971
  • In genomics: 2,677
• Year to date:
  • Site-wide: 58,623
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  • Site-wide: 115,808

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

• Downloaded 680 times
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  • Site-wide: 31,942
  • In genetics: 1,607
• Year to date:
  • Site-wide: 120,750
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  • Site-wide: 89,220

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

• Downloaded 670 times
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  • Site-wide: 32,595
  • In genetics: 1,635
• Year to date:
  • Site-wide: 35,183
• Since beginning of last month:
  • Site-wide: 39,884

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

• Downloaded 647 times
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  • Site-wide: 34,155
  • In genetics: 1,709
• Year to date:
  • Site-wide: 74,065
• Since beginning of last month:
  • Site-wide: 37,904

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

• Downloaded 644 times
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  • Site-wide: 34,391
  • In genetics: 1,719
• Year to date:
  • Site-wide: 55,059
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  • Site-wide: 63,559

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

• Downloaded 631 times
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  • Site-wide: 35,310
  • In genetics: 1,765
• Year to date:
  • Site-wide: 110,692
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  • Site-wide: 117,726

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

• Downloaded 617 times
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  • Site-wide: 36,291
  • In genetics: 1,804
• Year to date:
  • Site-wide: 121,717
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  • Site-wide: 56,721

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: 40,147
  • In genetics: 1,953
• Year to date:
  • Site-wide: 82,098
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  • Site-wide: 104,328

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

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  • Site-wide: 41,924
  • In genetics: 2,050
• Year to date:
  • Site-wide: 26,503
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  • Site-wide: 36,562

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

• Downloaded 544 times
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  • Site-wide: 42,566
  • In genetics: 2,086
• Year to date:
  • Site-wide: 49,815
• Since beginning of last month:
  • Site-wide: 73,092

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

• Downloaded 479 times
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  • Site-wide: 49,396
  • In genomics: 3,916
• Year to date:
  • Site-wide: 119,567
• Since beginning of last month:
  • Site-wide: 119,197

Meta-analysis of Scandinavian Schizophrenia Exomes

• Downloaded 410 times
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  • Site-wide: 58,390
  • In genetics: 2,801
• Year to date:
  • Site-wide: 84,365
• Since beginning of last month:
  • Site-wide: 95,985

Target Gene Notebook: Connecting genetics and drug discovery

• Downloaded 335 times
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  • Site-wide: 70,336
  • In genomics: 4,900
• Year to date:
  • Site-wide: 106,405
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  • Site-wide: 115,207

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

• Downloaded 331 times
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  • Site-wide: 70,963
  • In cardiovascular medicine: 102
• Year to date:
  • Site-wide: 59,470
• Since beginning of last month:
  • Site-wide: 35,706

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

• Downloaded 324 times
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  • Site-wide: 72,239
  • In genetics: 3,423
• Year to date:
  • Site-wide: 80,865
• Since beginning of last month:
  • Site-wide: 120,785

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

• Downloaded 301 times
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  • Site-wide: 76,549
  • In immunology: 2,035
• Year to date:
  • Site-wide: 76,033
• Since beginning of last month:
  • Site-wide: 110,451

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

• Downloaded 246 times
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  • Site-wide: 87,784
  • In genomics: 5,523
• Year to date:
  • Site-wide: 9,698
• Since beginning of last month:
  • Site-wide: 9,375

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

• Downloaded 232 times
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  • Site-wide: 90,619
  • In genetic and genomic medicine: 288
• Year to date:
  • Site-wide: 83,226
• Since beginning of last month:
  • Site-wide: 22,531

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

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