Author: Mark J. Daly
- ORCiD: http://orcid.org/0000-0002-0949-8752
- Most recently observed institution: Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland
Rankings
- All-time downloads: 226,673 (rank: 223 )
- Categories:
- bioinformatics: 223 (rank: 35,202 (tie) )
- cardiovascular medicine: 419 (rank: 1,075 (tie) )
- evolutionary biology: 2,925 (rank: 1,362 (tie) )
- gastroenterology: 1,829 (rank: 69 (tie) )
- genetic and genomic medicine: 3,658 (rank: 255 (tie) )
- genetics: 117,611 (rank: 10 )
- genomics: 98,032 (rank: 98 )
- immunology: 307 (rank: 23,195 (tie) )
- oncology: 839 (rank: 637 (tie) )
- systems biology: 830 (rank: 5,239 (tie) )
Downloads per author, site-wide
Preprints
Analysis across Taiwan Biobank, Biobank Japan and UK Biobank identifies hundreds of novel loci for 36 quantitative traits
genetic and genomic medicine more details view paperNo download data for this paper yet.
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 22,018 times
- Download rankings, all-time:
- Site-wide: 307
- In genomics: 11
- Year to date:
- Site-wide: 24,137
- Since beginning of last month:
- Site-wide: 19,850
An Atlas of Genetic Correlations across Human Diseases and Traits
genomics more details view paper- Downloaded 14,495 times
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- Site-wide: 474
- In genomics: 28
- Year to date:
- Site-wide: 11,952
- Since beginning of last month:
- Site-wide: 11,838
Discovery Of The First Genome-Wide Significant Risk Loci For ADHD
genetics more details view paper- Downloaded 11,275 times
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- Site-wide: 684
- In genetics: 18
- Year to date:
- Site-wide: 2,704
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- Site-wide: 1,329
An open resource of structural variation for medical and population genetics
genomics more details view paper- Downloaded 10,999 times
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- Site-wide: 712
- In genomics: 53
- Year to date:
- Site-wide: 8,402
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- Site-wide: 11,308
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
genetics more details view paper- Downloaded 10,216 times
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- Site-wide: 780
- In genetics: 22
- Year to date:
- Site-wide: 5,989
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- Site-wide: 11,578
Regional missense constraint improves variant deleteriousness prediction
genomics more details view paper- Downloaded 8,073 times
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- Site-wide: 1,057
- In genomics: 96
- Year to date:
- Site-wide: 3,278
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- Site-wide: 3,336
Common risk variants identified in autism spectrum disorder
genetics more details view paper- Downloaded 7,982 times
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- Site-wide: 1,070
- In genetics: 32
- Year to date:
- Site-wide: 2,273
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- Site-wide: 2,246
LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies
genomics more details view paper- Downloaded 7,173 times
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- Site-wide: 1,232
- In genomics: 115
- Year to date:
- Site-wide: 69,525
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- Site-wide: 73,229
New mutations, old statistical challenges
genetics more details view paper- Downloaded 7,131 times
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- Site-wide: 1,240
- In genetics: 40
- Year to date:
- Site-wide: 69,764
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- Site-wide: 67,384
Genetics of 38 blood and urine biomarkers in the UK Biobank
genetics more details view paper- Downloaded 7,012 times
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- Site-wide: 1,261
- In genetics: 43
- Year to date:
- Site-wide: 1,733
- Since beginning of last month:
- Site-wide: 2,949
Current clinical use of polygenic scores will risk exacerbating health disparities
genetics more details view paper- Downloaded 6,543 times
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- Site-wide: 1,373
- In genetics: 47
- Year to date:
- Site-wide: 10,890
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- Site-wide: 11,843
Evaluating potential drug targets through human loss-of-function genetic variation
genomics more details view paper- Downloaded 4,878 times
- Download rankings, all-time:
- Site-wide: 2,053
- In genomics: 212
- Year to date:
- Site-wide: 7,133
- Since beginning of last month:
- Site-wide: 9,370
Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.
genomics more details view paper- Downloaded 4,767 times
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- Site-wide: 2,128
- In genomics: 224
- Year to date:
- Site-wide: 14,875
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- Site-wide: 16,881
Transcript expression-aware annotation improves rare variant discovery and interpretation
genomics more details view paper- Downloaded 3,815 times
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- Site-wide: 2,935
- In genomics: 333
- Year to date:
- Site-wide: 23,012
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- Site-wide: 41,458
Association mapping of inflammatory bowel disease loci to single variant resolution
genetics more details view paper- Downloaded 3,610 times
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- Site-wide: 3,181
- In genetics: 122
- Year to date:
- Site-wide: 52,076
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- Site-wide: 47,689
Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation
genetics more details view paper- Downloaded 3,504 times
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- Site-wide: 3,320
- In genetics: 128
- Year to date:
- Site-wide: 46,009
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- Site-wide: 41,643
Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study
genetics more details view paper- Downloaded 3,447 times
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- Site-wide: 3,394
- In genetics: 132
- Year to date:
- Site-wide: 65,999
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- Site-wide: 61,944
Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia
genetic and genomic medicine more details view paper- Downloaded 3,367 times
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- Site-wide: 3,515
- In genetic and genomic medicine: 11
- Year to date:
- Site-wide: 983
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- Site-wide: 1,053
Human demographic history impacts genetic risk prediction across diverse populations
genomics more details view paper- Downloaded 3,118 times
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- Site-wide: 3,915
- In genomics: 446
- Year to date:
- Site-wide: 41,178
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- Site-wide: 29,529
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 2,925 times
- Download rankings, all-time:
- Site-wide: 4,284
- In evolutionary biology: 90
- Year to date:
- Site-wide: 65,656
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- Site-wide: 75,573
Genome-wide maps of enhancer regulation connect risk variants to disease genes
genetics more details view paper- Downloaded 2,791 times
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- Site-wide: 4,574
- In genetics: 200
- Year to date:
- Site-wide: 1,679
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- Site-wide: 1,069
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
genetics more details view paper- Downloaded 2,570 times
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- Site-wide: 5,164
- In genetics: 235
- Year to date:
- Site-wide: 7,519
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- Site-wide: 12,456
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 2,537 times
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- Site-wide: 5,257
- In genomics: 591
- Year to date:
- Site-wide: 74,964
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- Site-wide: 97,739
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
genetics more details view paper- Downloaded 2,509 times
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- Site-wide: 5,352
- In genetics: 246
- Year to date:
- Site-wide: 92,258
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- Site-wide: 90,534
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
genetics more details view paper- Downloaded 2,489 times
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- Site-wide: 5,431
- In genetics: 249
- Year to date:
- Site-wide: 15,869
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- Site-wide: 18,533
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
genetics more details view paper- Downloaded 2,377 times
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- Site-wide: 5,799
- In genetics: 270
- Year to date:
- Site-wide: 91,026
- Since beginning of last month:
- Site-wide: 108,271
Comparative genetic architectures of schizophrenia in East Asian and European populations
genetics more details view paper- Downloaded 2,303 times
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- Site-wide: 6,088
- In genetics: 286
- Year to date:
- Site-wide: 27,464
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- Site-wide: 24,390
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
genetics more details view paper- Downloaded 2,301 times
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- Site-wide: 6,102
- In genetics: 287
- Year to date:
- Site-wide: 108,325
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- Site-wide: 90,615
Bayesian model comparison for rare variant association studies of multiple phenotypes
genetics more details view paper- Downloaded 2,258 times
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- Site-wide: 6,270
- In genetics: 297
- Year to date:
- Site-wide: 43,048
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- Site-wide: 57,008
Population histories of the United States revealed through fine-scale migration and haplotype analysis
genetics more details view paper- Downloaded 2,124 times
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- Site-wide: 6,848
- In genetics: 332
- Year to date:
- Site-wide: 47,300
- Since beginning of last month:
- Site-wide: 53,274
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
genetics more details view paper- Downloaded 2,021 times
- Download rankings, all-time:
- Site-wide: 7,347
- In genetics: 347
- Year to date:
- Site-wide: 46,905
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- Site-wide: 61,792
Abundant contribution of short tandem repeats to gene expression variation in humans
genomics more details view paper- Downloaded 1,893 times
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- Site-wide: 8,123
- In genomics: 883
- Year to date:
- Site-wide: 99,136
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- Site-wide: 105,776
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 1,829 times
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- Site-wide: 8,568
- In gastroenterology: 6
- Year to date:
- Site-wide: 24,680
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- Site-wide: 24,074
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations
genomics more details view paper- Downloaded 1,792 times
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- Site-wide: 8,825
- In genomics: 960
- Year to date:
- Site-wide: 3,232
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- Site-wide: 2,369
A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects
genetics more details view paper- Downloaded 1,791 times
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- Site-wide: 8,833
- In genetics: 415
- Year to date:
- Site-wide: 48,558
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- Site-wide: 57,037
ASD and ADHD have a similar burden of rare protein-truncating variants
genetics more details view paper- Downloaded 1,750 times
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- Site-wide: 9,161
- In genetics: 438
- Year to date:
- Site-wide: 32,296
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- Site-wide: 47,127
Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium
genomics more details view paper- Downloaded 1,695 times
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- Site-wide: 9,617
- In genomics: 1,054
- Year to date:
- Site-wide: 59,978
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- Site-wide: 61,686
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
genetics more details view paper- Downloaded 1,676 times
- Download rankings, all-time:
- Site-wide: 9,758
- In genetics: 468
- Year to date:
- Site-wide: 98,867
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- Site-wide: 106,770
Gene family information facilitates variant interpretation and identification of disease-associated genes
genetics more details view paper- Downloaded 1,650 times
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- Site-wide: 9,981
- In genetics: 479
- Year to date:
- Site-wide: 67,893
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- Site-wide: 62,135
Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels
genetics more details view paper- Downloaded 1,613 times
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- Site-wide: 10,309
- In genetics: 498
- Year to date:
- Site-wide: 12,608
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- Site-wide: 9,791
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
genetics more details view paper- Downloaded 1,532 times
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- Site-wide: 11,121
- In genetics: 534
- Year to date:
- Site-wide: 117,096
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- Site-wide: 119,352
Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.
genomics more details view paper- Downloaded 1,528 times
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- Site-wide: 11,148
- In genomics: 1,210
- Year to date:
- Site-wide: 7,334
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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 1,459 times
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- Site-wide: 11,914
- In genetics: 578
- Year to date:
- Site-wide: 99,208
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- Site-wide: 106,909
Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes
genomics more details view paper- Downloaded 1,458 times
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- Site-wide: 11,939
- In genomics: 1,296
- Year to date:
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An Unexpectedly Complex Architecture for Skin Pigmentation in Africans
genetics more details view paper- Downloaded 1,439 times
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- Site-wide: 12,168
- In genetics: 593
- Year to date:
- Site-wide: 81,720
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Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan
genetics more details view paper- Downloaded 1,342 times
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- Site-wide: 13,557
- In genetics: 661
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- Site-wide: 14,013
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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data
genomics more details view paper- Downloaded 1,316 times
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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 1,313 times
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Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation
genetics more details view paper- Downloaded 1,298 times
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- Site-wide: 14,292
- In genetics: 704
- Year to date:
- Site-wide: 66,212
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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology
genetics more details view paper- Downloaded 1,227 times
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- In genetics: 768
- Year to date:
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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients
genomics more details view paper- Downloaded 1,208 times
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- Site-wide: 15,938
- In genomics: 1,637
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Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids
genetics more details view paper- Downloaded 1,171 times
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- Site-wide: 16,656
- In genetics: 816
- Year to date:
- Site-wide: 59,957
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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 1,163 times
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- Site-wide: 16,847
- In genetics: 825
- Year to date:
- Site-wide: 91,516
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- Site-wide: 87,061
Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides
genomics more details view paper- Downloaded 1,150 times
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- Site-wide: 17,126
- In genomics: 1,768
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The ExAC Browser: Displaying reference data information from over 60,000 exomes
genomics more details view paper- Downloaded 1,079 times
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- Site-wide: 18,814
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- Site-wide: 121,432
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Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders
genomics more details view paper- Downloaded 1,023 times
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- Site-wide: 20,317
- In genomics: 2,030
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The rate of false polymorphisms introduced when imputing genotypes from global imputation panels
genetics more details view paper- Downloaded 968 times
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- Site-wide: 21,985
- In genetics: 1,056
- Year to date:
- Site-wide: 81,687
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- Site-wide: 97,269
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma
genetics more details view paper- Downloaded 925 times
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- Site-wide: 23,527
- In genetics: 1,137
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Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation
genetics more details view paper- Downloaded 845 times
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- Site-wide: 26,725
- In genetics: 1,291
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- Site-wide: 131,198
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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- Downloaded 841 times
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Schizophrenia risk conferred by protein-coding de novo mutations
genetics more details view paper- Downloaded 839 times
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- Site-wide: 26,992
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- Site-wide: 88,731
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- Site-wide: 81,157
Polygenic risk, susceptibility genes, and breast cancer over the life course
oncology more details view paper- Downloaded 839 times
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- Site-wide: 26,998
- In oncology: 30
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Epigenetic aging of classical monocytes from healthy individuals
systems biology more details view paper- Downloaded 830 times
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Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers
genetics more details view paper- Downloaded 822 times
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- Site-wide: 131,585
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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- Downloaded 776 times
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- Site-wide: 30,144
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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- Downloaded 740 times
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A platform for case-control matching enables association studies without genotype sharing
genetics more details view paper- Downloaded 738 times
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Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
genetics more details view paper- Downloaded 717 times
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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes
genetics more details view paper- Downloaded 694 times
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An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease
genetics more details view paper- Downloaded 671 times
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CCR5-del32 is not deleterious in the homozygous state in humans
genetics more details view paper- Downloaded 667 times
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RICOPILI: Rapid Imputation for COnsortias PIpeLIne
genetics more details view paper- Downloaded 641 times
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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- Downloaded 638 times
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Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland
genetics more details view paper- Downloaded 578 times
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Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects
genetics more details view paper- Downloaded 573 times
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A method to exploit the structure of genetic ancestry space to enhance case-control studies
genomics more details view paper- Downloaded 497 times
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- Site-wide: 53,173
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Meta-analysis of Scandinavian Schizophrenia Exomes
genetics more details view paper- Downloaded 447 times
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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
genomics more details view paper- Downloaded 438 times
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High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.
cardiovascular medicine more details view paper- Downloaded 419 times
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Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies
genetics more details view paper- Downloaded 344 times
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- Site-wide: 76,528
- In genetics: 3,497
- Year to date:
- Site-wide: 91,171
- Since beginning of last month:
- Site-wide: 109,655
Target Gene Notebook: Connecting genetics and drug discovery
genomics more details view paper- Downloaded 342 times
- Download rankings, all-time:
- Site-wide: 76,863
- In genomics: 5,157
- Year to date:
- Site-wide: 130,430
- Since beginning of last month:
- Site-wide: 122,567
Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection
immunology more details view paper- Downloaded 307 times
- Download rankings, all-time:
- Site-wide: 83,751
- In immunology: 2,339
- Year to date:
- Site-wide: 128,326
- Since beginning of last month:
- Site-wide: 127,174
Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder
genetic and genomic medicine more details view paper- Downloaded 291 times
- Download rankings, all-time:
- Site-wide: 87,197
- In genetic and genomic medicine: 319
- Year to date:
- Site-wide: 42,213
- Since beginning of last month:
- Site-wide: 29,356
Prioritization of disease genes from GWAS using ensemble based positive-unlabeled learning
bioinformatics more details view paper- Downloaded 223 times
- Download rankings, all-time:
- Site-wide: 102,083
- In bioinformatics: 8,710
- Year to date:
- Site-wide: 67,579
- Since beginning of last month:
- Site-wide: 51,684
PanLingua
News
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!