Author: Mark Daly
- ORCiD: http://orcid.org/0000-0002-0949-8752
- Most recently observed institution: Massachusetts General Program in Medical and Population Genetics, Broad Institute; Analytic and Translational Genetics Unit, Massachusetts General Hospital
Rankings
- All-time downloads: 283,589 (rank: 268 )
- Categories:
- allergy and immunology: 517 (rank: 2,610 (tie) )
- bioinformatics: 434 (rank: 34,530 (tie) )
- cardiovascular medicine: 892 (rank: 966 )
- evolutionary biology: 3,080 (rank: 1,829 (tie) )
- gastroenterology: 2,049 (rank: 112 (tie) )
- genetic and genomic medicine: 17,901 (rank: 15 )
- genetics: 128,838 (rank: 10 )
- genomics: 108,042 (rank: 108 )
- immunology: 335 (rank: 34,363 (tie) )
- neurology: 1,323 (rank: 1,535 (tie) )
- neuroscience: 647 (rank: 48,745 (tie) )
- oncology: 999 (rank: 949 (tie) )
- psychiatry and clinical psychology: 1,068 (rank: 1,677 (tie) )
- systems biology: 1,051 (rank: 5,394 (tie) )
Downloads per author, site-wide
Preprints
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 22,372 times
- Download rankings, all-time:
- Site-wide: 470
- In genomics: 13
- Year to date:
- Site-wide: 32,847
- Since beginning of last month:
- Site-wide: 38,348
An Atlas of Genetic Correlations across Human Diseases and Traits
genomics more details view paper- Downloaded 15,174 times
- Download rankings, all-time:
- Site-wide: 747
- In genomics: 32
- Year to date:
- Site-wide: 14,385
- Since beginning of last month:
- Site-wide: 23,557
Discovery Of The First Genome-Wide Significant Risk Loci For ADHD
genetics more details view paper- Downloaded 12,447 times
- Download rankings, all-time:
- Site-wide: 970
- In genetics: 18
- Year to date:
- Site-wide: 7,373
- Since beginning of last month:
- Site-wide: 9,680
An open resource of structural variation for medical and population genetics
genomics more details view paper- Downloaded 11,541 times
- Download rankings, all-time:
- Site-wide: 1,066
- In genomics: 61
- Year to date:
- Site-wide: 21,739
- Since beginning of last month:
- Site-wide: 25,361
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
genetics more details view paper- Downloaded 10,877 times
- Download rankings, all-time:
- 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
genomics more details view paper- Downloaded 10,681 times
- Download rankings, all-time:
- 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
genetics more details view paper- Downloaded 9,146 times
- Download rankings, all-time:
- Site-wide: 1,420
- In genetics: 28
- Year to date:
- Site-wide: 28,385
- Since beginning of last month:
- Site-wide: 24,374
Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia
genetic and genomic medicine more details view paper- Downloaded 8,034 times
- Download rankings, all-time:
- Site-wide: 1,692
- In genetic and genomic medicine: 10
- Year to date:
- Site-wide: 678
- Since beginning of last month:
- Site-wide: 2,679
Genetics of 38 blood and urine biomarkers in the UK Biobank
genetics more details view paper- Downloaded 7,852 times
- Download rankings, all-time:
- Site-wide: 1,725
- In genetics: 37
- Year to date:
- Site-wide: 27,688
- Since beginning of last month:
- Site-wide: 33,646
LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies
genomics more details view paper- Downloaded 7,344 times
- Download rankings, all-time:
- Site-wide: 1,875
- In genomics: 128
- Year to date:
- Site-wide: 65,670
- Since beginning of last month:
- Site-wide: 66,435
New mutations, old statistical challenges
genetics more details view paper- Downloaded 7,293 times
- Download rankings, all-time:
- Site-wide: 1,892
- In genetics: 44
- Year to date:
- Site-wide: 117,707
- Since beginning of last month:
- Site-wide: 147,649
Current clinical use of polygenic scores will risk exacerbating health disparities
genetics more details view paper- Downloaded 7,036 times
- Download rankings, all-time:
- Site-wide: 1,999
- In genetics: 47
- Year to date:
- Site-wide: 31,968
- Since beginning of last month:
- Site-wide: 23,548
Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
genetic and genomic medicine more details view paper- Downloaded 5,751 times
- Download rankings, all-time:
- Site-wide: 2,618
- In genetic and genomic medicine: 15
- Year to date:
- Site-wide: 979
- Since beginning of last month:
- Site-wide: 352
Evaluating potential drug targets through human loss-of-function genetic variation
genomics more details view paper- Downloaded 5,467 times
- Download rankings, all-time:
- Site-wide: 2,815
- In genomics: 231
- Year to date:
- Site-wide: 25,128
- Since beginning of last month:
- Site-wide: 12,823
Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.
genomics more details view paper- Downloaded 5,110 times
- Download rankings, all-time:
- Site-wide: 3,090
- In genomics: 264
- Year to date:
- Site-wide: 41,972
- Since beginning of last month:
- Site-wide: 58,261
Transcript expression-aware annotation improves rare variant discovery and interpretation
genomics more details view paper- Downloaded 4,076 times
- Download rankings, all-time:
- Site-wide: 4,179
- In genomics: 375
- Year to date:
- Site-wide: 67,083
- Since beginning of last month:
- Site-wide: 58,548
Association mapping of inflammatory bowel disease loci to single variant resolution
genetics more details view paper- Downloaded 3,744 times
- Download rankings, all-time:
- Site-wide: 4,727
- In genetics: 143
- Year to date:
- Site-wide: 113,180
- Since beginning of last month:
- Site-wide: 85,965
Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation
genetics more details view paper- Downloaded 3,703 times
- Download rankings, all-time:
- Site-wide: 4,793
- In genetics: 146
- Year to date:
- Site-wide: 94,165
- Since beginning of last month:
- Site-wide: 93,160
Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study
genetics more details view paper- Downloaded 3,533 times
- Download rankings, all-time:
- Site-wide: 5,133
- In genetics: 160
- Year to date:
- Site-wide: 129,409
- Since beginning of last month:
- Site-wide: 178,403
Genome-wide maps of enhancer regulation connect risk variants to disease genes
genetics more details view paper- Downloaded 3,439 times
- Download rankings, all-time:
- Site-wide: 5,346
- In genetics: 181
- Year to date:
- Site-wide: 33,548
- Since beginning of last month:
- Site-wide: 59,325
Human demographic history impacts genetic risk prediction across diverse populations
genomics more details view paper- Downloaded 3,308 times
- Download rankings, all-time:
- Site-wide: 5,664
- In genomics: 511
- Year to date:
- Site-wide: 69,636
- Since beginning of last month:
- Site-wide: 58,278
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
genetics more details view paper- Downloaded 3,197 times
- Download rankings, all-time:
- Site-wide: 5,955
- In genetics: 211
- Year to date:
- Site-wide: 31,513
- Since beginning of last month:
- Site-wide: 23,501
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 3,115 times
- Download rankings, all-time:
- Site-wide: 6,173
- In evolutionary biology: 109
- Year to date:
- Site-wide: 81,918
- Since beginning of last month:
- Site-wide: 161,611
Bayesian model comparison for rare variant association studies
genetics more details view paper- Downloaded 2,994 times
- Download rankings, all-time:
- Site-wide: 6,534
- In genetics: 240
- Year to date:
- Site-wide: 33,302
- Since beginning of last month:
- Site-wide: 42,193
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
genetics more details view paper- Downloaded 2,794 times
- Download rankings, all-time:
- 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
genomics more details view paper- Downloaded 2,792 times
- Download rankings, all-time:
- Site-wide: 7,222
- In genomics: 785
- Year to date:
- Site-wide: 4,475
- Since beginning of last month:
- Site-wide: 5,758
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
genetics more details view paper- Downloaded 2,715 times
- Download rankings, all-time:
- 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
genomics more details view paper- Downloaded 2,657 times
- Download rankings, all-time:
- Site-wide: 7,777
- In genomics: 703
- Year to date:
- Site-wide: 129,880
- Since beginning of last month:
- Site-wide: 174,246
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
genetics more details view paper- Downloaded 2,582 times
- Download rankings, all-time:
- 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
genetics more details view paper- Downloaded 2,489 times
- Download rankings, all-time:
- 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
genetics more details view paper- Downloaded 2,488 times
- Download rankings, all-time:
- 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
genomics more details view paper- Downloaded 2,456 times
- Download rankings, all-time:
- Site-wide: 8,729
- In genomics: 817
- Year to date:
- Site-wide: 42,322
- Since beginning of last month:
- Site-wide: 65,893
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
genetics more details view paper- Downloaded 2,417 times
- Download rankings, all-time:
- Site-wide: 8,936
- In genetics: 343
- Year to date:
- Site-wide: 125,191
- Since beginning of last month:
- Site-wide: 105,519
Population histories of the United States revealed through fine-scale migration and haplotype analysis
genetics more details view paper- Downloaded 2,264 times
- Download rankings, all-time:
- Site-wide: 9,837
- In genetics: 368
- Year to date:
- Site-wide: 94,156
- Since beginning of last month:
- Site-wide: 113,759
Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels
genetics more details view paper- Downloaded 2,253 times
- Download rankings, all-time:
- Site-wide: 9,893
- In genetics: 396
- Year to date:
- Site-wide: 14,912
- Since beginning of last month:
- Site-wide: 15,716
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 2,213 times
- Download rankings, all-time:
- Site-wide: 10,147
- In genetics: 409
- Year to date:
- Site-wide: 16,188
- Since beginning of last month:
- Site-wide: 23,664
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
genetics more details view paper- Downloaded 2,199 times
- Download rankings, all-time:
- Site-wide: 10,248
- In genetics: 387
- Year to date:
- Site-wide: 66,944
- Since beginning of last month:
- Site-wide: 58,249
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
neurology more details view paper- Downloaded 2,198 times
- Download rankings, all-time:
- Site-wide: 10,263
- In neurology: 52
- Year to date:
- Site-wide: 872
- Since beginning of last month:
- Site-wide: 1,044
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 paper- Downloaded 2,176 times
- Download rankings, all-time:
- Site-wide: 10,424
- In genetic and genomic medicine: 61
- Year to date:
- Site-wide: 5,904
- Since beginning of last month:
- 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
gastroenterology more details view paper- Downloaded 2,093 times
- Download rankings, all-time:
- Site-wide: 11,107
- In gastroenterology: 9
- Year to date:
- Site-wide: 66,664
- Since beginning of last month:
- Site-wide: 111,638
Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility
genetic and genomic medicine more details view paper- Downloaded 2,022 times
- Download rankings, all-time:
- Site-wide: 11,681
- In genetic and genomic medicine: 80
- Year to date:
- Site-wide: 3,694
- Since beginning of last month:
- Site-wide: 5,906
ASD and ADHD have a similar burden of rare protein-truncating variants
genetics more details view paper- Downloaded 2,008 times
- Download rankings, all-time:
- Site-wide: 11,795
- In genetics: 444
- Year to date:
- Site-wide: 69,559
- Since beginning of last month:
- Site-wide: 62,602
Abundant contribution of short tandem repeats to gene expression variation in humans
genomics more details view paper- Downloaded 1,978 times
- Download rankings, all-time:
- Site-wide: 12,058
- In genomics: 1,059
- Year to date:
- Site-wide: 185,131
- Since beginning of last month:
- Site-wide: 178,563
A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects
genetics more details view paper- Downloaded 1,928 times
- Download rankings, all-time:
- Site-wide: 12,513
- In genetics: 470
- Year to date:
- Site-wide: 153,375
- Since beginning of last month:
- Site-wide: 117,784
Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.
genomics more details view paper- Downloaded 1,826 times
- Download rankings, all-time:
- Site-wide: 13,548
- In genomics: 1,249
- Year to date:
- Site-wide: 66,500
- Since beginning of last month:
- Site-wide: 61,977
Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium
genomics more details view paper- Downloaded 1,817 times
- Download rankings, all-time:
- Site-wide: 13,647
- In genomics: 1,240
- Year to date:
- Site-wide: 87,814
- Since beginning of last month:
- Site-wide: 130,083
Gene family information facilitates variant interpretation and identification of disease-associated genes
genetics more details view paper- Downloaded 1,808 times
- Download rankings, all-time:
- Site-wide: 13,731
- In genetics: 526
- Year to date:
- Site-wide: 107,681
- Since beginning of last month:
- Site-wide: 93,190
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
genetics more details view paper- Downloaded 1,726 times
- Download rankings, all-time:
- Site-wide: 14,743
- In genetics: 576
- Year to date:
- Site-wide: 147,372
- Since beginning of last month:
- Site-wide: 146,057
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
genetics more details view paper- Downloaded 1,588 times
- Download rankings, all-time:
- Site-wide: 16,750
- In genetics: 661
- Year to date:
- Site-wide: 146,490
- Since beginning of last month:
- Site-wide: 185,904
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
genetics more details view paper- Downloaded 1,563 times
- Download rankings, all-time:
- Site-wide: 17,174
- In genetics: 680
- Year to date:
- Site-wide: 163,701
- Since beginning of last month:
- Site-wide: 170,730
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 1,563 times
- Download rankings, all-time:
- Site-wide: 17,177
- In genetics: 706
- Year to date:
- Site-wide: 63,280
- Since beginning of last month:
- Site-wide: 78,489
Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes
genomics more details view paper- Downloaded 1,560 times
- Download rankings, all-time:
- Site-wide: 17,222
- In genomics: 1,529
- Year to date:
- Site-wide: 107,925
- Since beginning of last month:
- Site-wide: 114,577
Set-based rare variant association tests for biobank scale sequencing data sets
genetic and genomic medicine more details view paper- Downloaded 1,518 times
- Download rankings, all-time:
- Site-wide: 17,963
- In genetic and genomic medicine: 204
- Year to date:
- Site-wide: 2,074
- Since beginning of last month:
- Site-wide: 1,715
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans
genetics more details view paper- Downloaded 1,511 times
- Download rankings, all-time:
- Site-wide: 18,077
- In genetics: 712
- Year to date:
- Site-wide: 183,510
- Since beginning of last month:
- Site-wide: 178,417
Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology
genetics more details view paper- Downloaded 1,465 times
- Download rankings, all-time:
- 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
genomics more details view paper- Downloaded 1,406 times
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- Site-wide: 20,202
- In genomics: 1,725
- Year to date:
- Site-wide: 178,916
- Since beginning of last month:
- Site-wide: 189,087
Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation
genetics more details view paper- Downloaded 1,379 times
- Download rankings, all-time:
- Site-wide: 20,806
- In genetics: 821
- Year to date:
- Site-wide: 183,482
- Since beginning of last month:
- Site-wide: 185,988
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients
genomics more details view paper- Downloaded 1,324 times
- Download rankings, all-time:
- Site-wide: 22,191
- In genomics: 1,878
- Year to date:
- Site-wide: 133,700
- Since beginning of last month:
- Site-wide: 118,962
Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids
genetics more details view paper- Downloaded 1,301 times
- Download rankings, all-time:
- Site-wide: 22,792
- In genetics: 914
- Year to date:
- Site-wide: 128,816
- Since beginning of last month:
- Site-wide: 104,951
FinnGen: Unique genetic insights from combining isolated population and national health register data
genetic and genomic medicine more details view paper- Downloaded 1,282 times
- Download rankings, all-time:
- Site-wide: 23,311
- In genetic and genomic medicine: None
- Year to date:
- Site-wide: 1,170
- Since beginning of last month:
- 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
genetics more details view paper- Downloaded 1,258 times
- Download rankings, all-time:
- Site-wide: 24,019
- In genetics: 944
- Year to date:
- Site-wide: 158,720
- Since beginning of last month:
- Site-wide: 116,830
Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides
genomics more details view paper- Downloaded 1,206 times
- Download rankings, all-time:
- Site-wide: 25,644
- In genomics: 2,127
- Year to date:
- Site-wide: 158,914
- Since beginning of last month:
- Site-wide: 161,059
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
genetics more details view paper- Downloaded 1,139 times
- Download rankings, all-time:
- Site-wide: 28,009
- In genetics: 1,219
- Year to date:
- Site-wide: 39,582
- Since beginning of last month:
- Site-wide: 66,536
The ExAC Browser: Displaying reference data information from over 60,000 exomes
genomics more details view paper- Downloaded 1,124 times
- Download rankings, all-time:
- Site-wide: 28,561
- In genomics: 2,324
- Year to date:
- Site-wide: 179,051
- Since beginning of last month:
- Site-wide: 160,931
Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders
genomics more details view paper- Downloaded 1,123 times
- Download rankings, all-time:
- Site-wide: 28,580
- In genomics: 2,330
- Year to date:
- Site-wide: 170,874
- Since beginning of last month:
- 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
genomics more details view paper- Downloaded 1,121 times
- Download rankings, all-time:
- Site-wide: 28,658
- In genomics: 2,771
- Year to date:
- Site-wide: 12,635
- Since beginning of last month:
- Site-wide: 12,851
Epigenetic aging of classical monocytes from healthy individuals
systems biology more details view paper- Downloaded 1,091 times
- Download rankings, all-time:
- 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
genetics more details view paper- Downloaded 1,066 times
- Download rankings, all-time:
- Site-wide: 30,916
- In genetics: 1,246
- Year to date:
- Site-wide: 114,294
- Since beginning of last month:
- Site-wide: 78,819
Polygenic risk, susceptibility genes, and breast cancer over the life course
oncology more details view paper- Downloaded 1,023 times
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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
genetics more details view paper- Downloaded 1,016 times
- Download rankings, all-time:
- Site-wide: 33,233
- In genetics: 1,336
- Year to date:
- Site-wide: 121,220
- Since beginning of last month:
- Site-wide: 116,423
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease
genetics more details view paper- Downloaded 977 times
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- Site-wide: 35,187
- In genetics: 1,435
- Year to date:
- Site-wide: 73,462
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- Site-wide: 67,738
Schizophrenia risk conferred by protein-coding de novo mutations
genetics more details view paper- 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
genetic and genomic medicine more details view paper- Downloaded 943 times
- Download rankings, all-time:
- Site-wide: 37,115
- In genetic and genomic medicine: 212
- Year to date:
- Site-wide: 14,810
- Since beginning of last month:
- Site-wide: 20,294
Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
genetic and genomic medicine more details view paper- Downloaded 931 times
- Download rankings, all-time:
- Site-wide: 37,841
- In genetic and genomic medicine: None
- Year to date:
- Site-wide: 1,896
- Since beginning of last month:
- Site-wide: 1,881
A platform for case-control matching enables association studies without genotype sharing
genetics more details view paper- 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
genetics more details view paper- Downloaded 907 times
- Download rankings, all-time:
- Site-wide: 39,308
- In genetics: 1,547
- Year to date:
- Site-wide: 169,084
- Since beginning of last month:
- Site-wide: 143,750
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 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
genomics more details view paper- Downloaded 871 times
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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
genetics more details view paper- Downloaded 858 times
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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.
psychiatry and clinical psychology more details view paper- Downloaded 831 times
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- Site-wide: 44,728
- In psychiatry and clinical psychology: 176
- Year to date:
- Site-wide: 34,940
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- Site-wide: 35,702
The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders
genetics more details view paper- 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
neuroscience more details view paper- Downloaded 797 times
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- Site-wide: 47,648
- In neuroscience: 8,166
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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 781 times
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- Site-wide: 49,056
- In genomics: 3,512
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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 764 times
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- Site-wide: 50,626
- In cardiovascular medicine: 100
- Year to date:
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CCR5-del32 is not deleterious in the homozygous state in humans
genetics more details view paper- Downloaded 760 times
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- Site-wide: 50,997
- In genetics: 2,009
- Year to date:
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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes
genetics more details view paper- Downloaded 749 times
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- Site-wide: 52,042
- In genetics: 2,003
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- Site-wide: 183,522
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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
allergy and immunology more details view paper- Downloaded 728 times
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- Site-wide: 54,224
- In allergy and immunology: 174
- Year to date:
- Site-wide: 6,926
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- Site-wide: 15,362
RICOPILI: Rapid Imputation for COnsortias PIpeLIne
genetics more details view paper- Downloaded 726 times
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- Site-wide: 54,419
- In genetics: 2,109
- Year to date:
- Site-wide: 156,669
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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
genetics more details view paper- Downloaded 714 times
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- Site-wide: 55,662
- In genetics: 2,142
- Year to date:
- Site-wide: 148,145
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- Site-wide: 173,123
Meta-analysis of Scandinavian Schizophrenia Exomes
genetics more details view paper- Downloaded 694 times
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- Site-wide: 57,942
- In genetics: 2,361
- Year to date:
- Site-wide: 72,130
- Since beginning of last month:
- Site-wide: 80,953
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 672 times
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- Site-wide: 60,674
- In genetics: 2,326
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- Site-wide: 178,486
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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 661 times
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- Site-wide: 62,004
- In genetics: 2,397
- Year to date:
- Site-wide: 156,770
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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 609 times
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- Site-wide: 68,985
- In genetic and genomic medicine: 347
- Year to date:
- Site-wide: 89,931
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- Site-wide: 109,933
A method to exploit the structure of genetic ancestry space to enhance case-control studies
genomics more details view paper- Downloaded 550 times
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- Site-wide: 78,267
- In genomics: 4,896
- Year to date:
- Site-wide: 183,564
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- Site-wide: 160,867
Secretoglobin family 1D member 2 (SCGB1D2) protein inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease
genetics more details view paper- Downloaded 469 times
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- Site-wide: 94,210
- In genetics: None
- Year to date:
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- Site-wide: 685
Prioritization of disease genes from GWAS using ensemble based positive-unlabeled learning
bioinformatics more details view paper- Downloaded 466 times
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- Site-wide: 94,937
- In bioinformatics: 8,068
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- Site-wide: 100,662
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Leveraging global multi-ancestry meta-analysis in the study of Idiopathic Pulmonary Fibrosis genetics
genetic and genomic medicine more details view paper- Downloaded 463 times
- Download rankings, all-time:
- Site-wide: 95,547
- In genetic and genomic medicine: 753
- Year to date:
- Site-wide: 6,040
- Since beginning of last month:
- Site-wide: 29,436
Target Gene Notebook: Connecting genetics and drug discovery
genomics more details view paper- Downloaded 437 times
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- Site-wide: 101,449
- In genomics: 5,845
- Year to date:
- Site-wide: 171,570
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- Site-wide: 152,495
Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies
genetics more details view paper- Downloaded 389 times
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- Site-wide: 113,032
- In genetics: 4,182
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- Site-wide: 177,118
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- Site-wide: 183,645
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
genetic and genomic medicine more details view paper- Downloaded 362 times
- Download rankings, all-time:
- Site-wide: 120,614
- In genetic and genomic medicine: 993
- Year to date:
- Site-wide: 21,340
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- Site-wide: 32,649
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention deficit hyperactivity disorder
psychiatry and clinical psychology more details view paper- Downloaded 357 times
- Download rankings, all-time:
- Site-wide: 121,911
- In psychiatry and clinical psychology: 613
- Year to date:
- Site-wide: 62,371
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- Site-wide: 106,513
Chromosome level genome assembly and annotation of highly invasive Japanese stiltgrass (Microstegium vimineum)
genomics more details view paper- Downloaded 357 times
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- Site-wide: 121,948
- In genomics: 6,678
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- Site-wide: 86,718
Polygenic risk score from a multi-ancestry GWAS uncovers susceptibility of heart failure
cardiovascular medicine more details view paper- Downloaded 349 times
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- Site-wide: 124,030
- In cardiovascular medicine: 485
- Year to date:
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- Site-wide: 44,851
Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection
immunology more details view paper- Downloaded 345 times
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- Site-wide: 125,210
- In immunology: 3,567
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- Site-wide: 177,010
Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci
genetic and genomic medicine more details view paper- Downloaded 298 times
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- Site-wide: 138,926
- In genetic and genomic medicine: 849
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Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing
genomics more details view paper- Downloaded 248 times
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- Site-wide: 153,697
- In genomics: None
- Year to date:
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Functional screen of Inflammatory Bowel Disease genes reveals key epithelial functions
genetics more details view paper- Downloaded 185 times
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- Site-wide: 170,564
- In genetics: 6,189
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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!