Author: Benjamin M Neale
- ORCiD: http://orcid.org/0000-0003-1513-6077
- Most recently observed institution: Medical and Population Genetics, Broad Institute, Cambridge, MA, US, Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, US, Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, US
Rankings
- All-time downloads: 231,742 (rank: 189 )
- Categories:
- bioinformatics: 12,853 (rank: 500 )
- cardiovascular medicine: 206 (rank: 2,103 (tie) )
- evolutionary biology: 2,925 (rank: 1,359 (tie) )
- genetic and genomic medicine: 5,500 (rank: 111 (tie) )
- genetics: 114,170 (rank: 12 )
- genomics: 93,968 (rank: 99 )
- psychiatry and clinical psychology: 2,120 (rank: 298 (tie) )
Downloads per author, site-wide
Preprints
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 22,018 times
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- Site-wide: 307
- In genomics: 11
- Year to date:
- Site-wide: 22,538
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- Site-wide: 17,242
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: 468
- In genomics: 28
- Year to date:
- Site-wide: 11,132
- Since beginning of last month:
- Site-wide: 9,893
Discovery Of The First Genome-Wide Significant Risk Loci For ADHD
genetics more details view paper- Downloaded 11,194 times
- Download rankings, all-time:
- Site-wide: 687
- In genetics: 18
- Year to date:
- Site-wide: 3,167
- Since beginning of last month:
- Site-wide: 1,593
An open resource of structural variation for medical and population genetics
genomics more details view paper- Downloaded 10,981 times
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- Site-wide: 708
- In genomics: 53
- Year to date:
- Site-wide: 8,682
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- Site-wide: 13,237
Regional missense constraint improves variant deleteriousness prediction
genomics more details view paper- Downloaded 8,073 times
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- Site-wide: 1,052
- In genomics: 96
- Year to date:
- Site-wide: 3,035
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Partitioning heritability by functional category using GWAS summary statistics
genetics more details view paper- Downloaded 7,883 times
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- Site-wide: 1,081
- In genetics: 32
- Year to date:
- Site-wide: 12,391
- Since beginning of last month:
- Site-wide: 8,981
Common risk variants identified in autism spectrum disorder
genetics more details view paper- Downloaded 7,868 times
- Download rankings, all-time:
- Site-wide: 1,084
- In genetics: 33
- Year to date:
- Site-wide: 2,827
- Since beginning of last month:
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LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
bioinformatics more details view paper- Downloaded 7,275 times
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- Site-wide: 1,208
- In bioinformatics: 78
- Year to date:
- Site-wide: 33,257
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- Site-wide: 34,221
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: 1,224
- In genomics: 114
- Year to date:
- Site-wide: 66,695
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- Site-wide: 63,607
New mutations, old statistical challenges
genetics more details view paper- Downloaded 7,130 times
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- Site-wide: 1,234
- In genetics: 40
- Year to date:
- Site-wide: 68,848
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MTAG: Multi-Trait Analysis of GWAS
genomics more details view paper- Downloaded 6,669 times
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- Site-wide: 1,321
- In genomics: 122
- Year to date:
- Site-wide: 21,793
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- Site-wide: 28,978
Current clinical use of polygenic scores will risk exacerbating health disparities
genetics more details view paper- Downloaded 6,503 times
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- Site-wide: 1,374
- In genetics: 47
- Year to date:
- Site-wide: 13,606
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- Site-wide: 23,260
Regulatory variants explain much more heritability than coding variants across 11 common diseases
genetics more details view paper- Downloaded 4,460 times
- Download rankings, all-time:
- Site-wide: 2,320
- In genetics: 87
- Year to date:
- Site-wide: 87,909
- Since beginning of last month:
- Site-wide: 77,858
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
genetics more details view paper- Downloaded 4,330 times
- Download rankings, all-time:
- Site-wide: 2,422
- In genetics: 91
- Year to date:
- Site-wide: 60,272
- Since beginning of last month:
- Site-wide: 88,290
Phenome-wide Heritability Analysis of the UK Biobank
genetics more details view paper- Downloaded 4,007 times
- Download rankings, all-time:
- Site-wide: 2,713
- In genetics: 104
- Year to date:
- Site-wide: 116,980
- Since beginning of last month:
- Site-wide: 99,391
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes
genomics more details view paper- Downloaded 3,752 times
- Download rankings, all-time:
- Site-wide: 2,991
- In genomics: 341
- Year to date:
- Site-wide: 9,649
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- Site-wide: 9,634
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
- Download rankings, all-time:
- Site-wide: 3,494
- In genetic and genomic medicine: 11
- Year to date:
- Site-wide: 921
- Since beginning of last month:
- Site-wide: 874
Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis
genetics more details view paper- Downloaded 3,175 times
- Download rankings, all-time:
- Site-wide: 3,807
- In genetics: 161
- Year to date:
- Site-wide: 56,383
- Since beginning of last month:
- Site-wide: 53,773
Genetic analyses identify widespread sex-differential participation bias
genetics more details view paper- Downloaded 3,162 times
- Download rankings, all-time:
- Site-wide: 3,821
- In genetics: 162
- Year to date:
- Site-wide: 7,766
- Since beginning of last month:
- Site-wide: 6,473
New synthetic-diploid benchmark for accurate variant calling evaluation
bioinformatics more details view paper- Downloaded 3,140 times
- Download rankings, all-time:
- Site-wide: 3,853
- In bioinformatics: 401
- Year to date:
- Site-wide: 63,987
- Since beginning of last month:
- Site-wide: 71,703
Human demographic history impacts genetic risk prediction across diverse populations
genomics more details view paper- Downloaded 3,111 times
- Download rankings, all-time:
- Site-wide: 3,891
- In genomics: 445
- Year to date:
- Site-wide: 43,315
- Since beginning of last month:
- Site-wide: 32,178
Haplotypes of common SNPs can explain missing heritability of complex diseases
genetics more details view paper- Downloaded 3,080 times
- Download rankings, all-time:
- Site-wide: 3,957
- In genetics: 169
- Year to date:
- Site-wide: 80,076
- Since beginning of last month:
- Site-wide: 70,123
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: 4,246
- In evolutionary biology: 90
- Year to date:
- Site-wide: 62,411
- Since beginning of last month:
- Site-wide: 71,393
Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection
genetics more details view paper- Downloaded 2,807 times
- Download rankings, all-time:
- Site-wide: 4,505
- In genetics: 198
- Year to date:
- Site-wide: 52,983
- Since beginning of last month:
- Site-wide: 72,268
Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers
genomics more details view paper- Downloaded 2,777 times
- Download rankings, all-time:
- Site-wide: 4,577
- In genomics: 511
- Year to date:
- Site-wide: 22,549
- Since beginning of last month:
- Site-wide: 18,546
A global view of pleiotropy and genetic architecture in complex traits
genetics more details view paper- Downloaded 2,703 times
- Download rankings, all-time:
- Site-wide: 4,779
- In genetics: 214
- Year to date:
- Site-wide: 14,247
- Since beginning of last month:
- Site-wide: 7,148
Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.
genetics more details view paper- Downloaded 2,630 times
- Download rankings, all-time:
- Site-wide: 4,953
- In genetics: 223
- Year to date:
- Site-wide: 84,236
- Since beginning of last month:
- Site-wide: 91,033
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
genetics more details view paper- Downloaded 2,546 times
- Download rankings, all-time:
- Site-wide: 5,188
- In genetics: 238
- Year to date:
- Site-wide: 7,943
- Since beginning of last month:
- Site-wide: 16,618
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
genetics more details view paper- Downloaded 2,508 times
- Download rankings, all-time:
- Site-wide: 5,312
- In genetics: 244
- Year to date:
- Site-wide: 90,568
- Since beginning of last month:
- Site-wide: 91,912
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
genetics more details view paper- Downloaded 2,476 times
- Download rankings, all-time:
- Site-wide: 5,431
- In genetics: 253
- Year to date:
- Site-wide: 16,718
- Since beginning of last month:
- Site-wide: 21,447
Non-parametric polygenic risk prediction using partitioned GWAS summary statistics
bioinformatics more details view paper- Downloaded 2,438 times
- Download rankings, all-time:
- Site-wide: 5,571
- In bioinformatics: 629
- Year to date:
- Site-wide: 60,678
- Since beginning of last month:
- Site-wide: 49,788
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
genetics more details view paper- Downloaded 2,299 times
- Download rankings, all-time:
- Site-wide: 6,061
- In genetics: 285
- Year to date:
- Site-wide: 111,284
- Since beginning of last month:
- Site-wide: 99,367
Comparative genetic architectures of schizophrenia in East Asian and European populations
genetics more details view paper- Downloaded 2,295 times
- Download rankings, all-time:
- Site-wide: 6,078
- In genetics: 287
- Year to date:
- Site-wide: 28,503
- Since beginning of last month:
- Site-wide: 25,495
Efficient Bayesian mixed model analysis increases association power in large cohorts
genetics more details view paper- Downloaded 2,283 times
- Download rankings, all-time:
- Site-wide: 6,121
- In genetics: 292
- Year to date:
- Site-wide: 57,000
- Since beginning of last month:
- Site-wide: 44,124
Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology
psychiatry and clinical psychology more details view paper- Downloaded 2,120 times
- Download rankings, all-time:
- Site-wide: 6,820
- In psychiatry and clinical psychology: 23
- Year to date:
- Site-wide: 1,301
- Since beginning of last month:
- Site-wide: 669
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
genomics more details view paper- Downloaded 2,092 times
- Download rankings, all-time:
- Site-wide: 6,943
- In genomics: 768
- Year to date:
- Site-wide: 126,325
- Since beginning of last month:
- Site-wide: 108,412
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
genetics more details view paper- Downloaded 2,018 times
- Download rankings, all-time:
- Site-wide: 7,306
- In genetics: 348
- Year to date:
- Site-wide: 46,820
- Since beginning of last month:
- Site-wide: 63,593
Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
genetics more details view paper- Downloaded 1,884 times
- Download rankings, all-time:
- Site-wide: 8,124
- In genetics: 373
- Year to date:
- Site-wide: 64,194
- Since beginning of last month:
- Site-wide: 53,858
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations
genomics more details view paper- Downloaded 1,792 times
- Download rankings, all-time:
- Site-wide: 8,757
- In genomics: 959
- Year to date:
- Site-wide: 2,992
- Since beginning of last month:
- Site-wide: 1,958
A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects
genetics more details view paper- Downloaded 1,787 times
- Download rankings, all-time:
- Site-wide: 8,804
- In genetics: 417
- Year to date:
- Site-wide: 49,319
- Since beginning of last month:
- Site-wide: 65,261
A cross-disorder dosage sensitivity map of the human genome
genetic and genomic medicine more details view paper- Downloaded 1,752 times
- Download rankings, all-time:
- Site-wide: 9,067
- In genetic and genomic medicine: 32
- Year to date:
- Site-wide: 538
- Since beginning of last month:
- Site-wide: 2,854
ASD and ADHD have a similar burden of rare protein-truncating variants
genetics more details view paper- Downloaded 1,744 times
- Download rankings, all-time:
- Site-wide: 9,140
- In genetics: 437
- Year to date:
- Site-wide: 33,159
- Since beginning of last month:
- Site-wide: 53,564
Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium
genomics more details view paper- Downloaded 1,695 times
- Download rankings, all-time:
- Site-wide: 9,539
- In genomics: 1,048
- Year to date:
- Site-wide: 56,659
- Since beginning of last month:
- Site-wide: 53,545
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: 9,709
- In genetics: 464
- Year to date:
- Site-wide: 95,021
- Since beginning of last month:
- Site-wide: 99,301
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
genetics more details view paper- Downloaded 1,530 times
- Download rankings, all-time:
- Site-wide: 11,066
- In genetics: 533
- Year to date:
- Site-wide: 120,171
- Since beginning of last month:
- Site-wide: 131,685
Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.
genomics more details view paper- Downloaded 1,497 times
- Download rankings, all-time:
- Site-wide: 11,375
- In genomics: 1,238
- Year to date:
- Site-wide: 8,066
- Since beginning of last month:
- Site-wide: 12,956
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
- Download rankings, all-time:
- Site-wide: 11,842
- In genetics: 575
- Year to date:
- Site-wide: 95,210
- Since beginning of last month:
- Site-wide: 99,431
Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes
genomics more details view paper- Downloaded 1,458 times
- Download rankings, all-time:
- Site-wide: 11,850
- In genomics: 1,290
- Year to date:
- Site-wide: 71,767
- Since beginning of last month:
- Site-wide: 71,043
A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder
genetics more details view paper- Downloaded 1,409 times
- Download rankings, all-time:
- Site-wide: 12,499
- In genetics: 614
- Year to date:
- Site-wide: 53,586
- Since beginning of last month:
- Site-wide: 54,489
Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology
genetics more details view paper- Downloaded 1,227 times
- Download rankings, all-time:
- Site-wide: 15,457
- In genetics: 765
- Year to date:
- Site-wide: 25,944
- Since beginning of last month:
- Site-wide: 24,936
Lifelong genetically lowered sclerostin and risk of cardiovascular disease.
genetics more details view paper- Downloaded 1,225 times
- Download rankings, all-time:
- Site-wide: 15,482
- In genetics: 766
- Year to date:
- Site-wide: 55,243
- Since beginning of last month:
- Site-wide: 63,497
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients
genomics more details view paper- Downloaded 1,208 times
- Download rankings, all-time:
- Site-wide: 15,805
- In genomics: 1,630
- Year to date:
- Site-wide: 66,887
- Since beginning of last month:
- Site-wide: 46,000
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
- Download rankings, all-time:
- Site-wide: 16,740
- In genetics: 821
- Year to date:
- Site-wide: 87,570
- Since beginning of last month:
- Site-wide: 79,260
Subtle stratification confounds estimates of heritability from rare variants
genetics more details view paper- Downloaded 1,160 times
- Download rankings, all-time:
- Site-wide: 16,802
- In genetics: 826
- Year to date:
- Site-wide: 72,055
- Since beginning of last month:
- Site-wide: 59,882
The genetic architecture of sporadic and recurrent miscarriage
genetics more details view paper- Downloaded 1,148 times
- Download rankings, all-time:
- Site-wide: 17,072
- In genetics: 837
- Year to date:
- Site-wide: 40,483
- Since beginning of last month:
- Site-wide: 27,849
Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides
genomics more details view paper- Downloaded 1,146 times
- Download rankings, all-time:
- Site-wide: 17,107
- In genomics: 1,767
- Year to date:
- Site-wide: 120,416
- Since beginning of last month:
- Site-wide: 109,012
The weighting is the hardest part: on the behavior of the likelihood ratio test and score test under weight misspecification in rare variant association studies
genetics more details view paper- Downloaded 1,068 times
- Download rankings, all-time:
- Site-wide: 18,975
- In genetics: 924
- Year to date:
- Site-wide: 73,564
- Since beginning of last month:
- Site-wide: 110,671
Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.
genetics more details view paper- Downloaded 1,064 times
- Download rankings, all-time:
- Site-wide: 19,078
- In genetics: 928
- Year to date:
- Site-wide: 79,662
- Since beginning of last month:
- Site-wide: 70,613
Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
genetics more details view paper- Downloaded 964 times
- Download rankings, all-time:
- Site-wide: 21,977
- In genetics: 1,058
- Year to date:
- Site-wide: 93,191
- Since beginning of last month:
- Site-wide: 71,055
Functional partitioning of local and distal gene expression regulation in multiple human tissues
genomics more details view paper- Downloaded 856 times
- Download rankings, all-time:
- Site-wide: 26,086
- In genomics: 2,451
- Year to date:
- Site-wide: 131,192
- Since beginning of last month:
- Site-wide: 114,810
Human genetic analyses of organelles highlight the nucleus, but not the mitochondrion, in age-related trait heritability
genomics more details view paper- Downloaded 841 times
- Download rankings, all-time:
- Site-wide: 26,712
- In genomics: 2,493
- Year to date:
- Site-wide: 1,334
- Since beginning of last month:
- Site-wide: 1,533
Schizophrenia risk conferred by protein-coding de novo mutations
genetics more details view paper- Downloaded 837 times
- Download rankings, all-time:
- Site-wide: 26,915
- In genetics: 1,307
- Year to date:
- Site-wide: 91,296
- Since beginning of last month:
- Site-wide: 89,170
Genetic markers of ADHD-related variations in intracranial volume
genetics more details view paper- Downloaded 819 times
- Download rankings, all-time:
- Site-wide: 27,758
- In genetics: 1,348
- Year to date:
- Site-wide: 60,187
- Since beginning of last month:
- Site-wide: 53,463
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
- Download rankings, all-time:
- Site-wide: 29,903
- In genetics: 1,455
- Year to date:
- Site-wide: 68,898
- Since beginning of last month:
- Site-wide: 90,923
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries
genomics more details view paper- Downloaded 740 times
- Download rankings, all-time:
- Site-wide: 31,944
- In genomics: 2,843
- Year to date:
- Site-wide: 113,505
- Since beginning of last month:
- Site-wide: 131,752
Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language
genetics more details view paper- Downloaded 734 times
- Download rankings, all-time:
- Site-wide: 32,375
- In genetics: 1,568
- Year to date:
- Site-wide: 81,254
- Since beginning of last month:
- Site-wide: 70,440
Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies
genetics more details view paper- Downloaded 733 times
- Download rankings, all-time:
- Site-wide: 32,465
- In genetics: 1,571
- Year to date:
- Site-wide: 11,630
- Since beginning of last month:
- Site-wide: 7,284
Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits
genetics more details view paper- Downloaded 701 times
- Download rankings, all-time:
- Site-wide: 34,440
- In genetics: 1,657
- Year to date:
- Site-wide: 30,078
- Since beginning of last month:
- Site-wide: 51,886
Bootstrat: Population Informed Bootstrapping for Rare Variant Tests
genomics more details view paper- Downloaded 666 times
- Download rankings, all-time:
- Site-wide: 36,881
- In genomics: 3,147
- Year to date:
- Site-wide: 81,148
- Since beginning of last month:
- Site-wide: 63,718
RICOPILI: Rapid Imputation for COnsortias PIpeLIne
genetics more details view paper- Downloaded 639 times
- Download rankings, all-time:
- Site-wide: 38,934
- In genetics: 1,855
- Year to date:
- Site-wide: 129,525
- Since beginning of last month:
- Site-wide: 132,434
Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation
genetics more details view paper- Downloaded 619 times
- Download rankings, all-time:
- Site-wide: 40,545
- In genetics: 1,931
- Year to date:
- Site-wide: 117,113
- Since beginning of last month:
- Site-wide: 99,366
A method to exploit the structure of genetic ancestry space to enhance case-control studies
genomics more details view paper- Downloaded 490 times
- Download rankings, all-time:
- Site-wide: 53,803
- In genomics: 4,134
- Year to date:
- Site-wide: 125,864
- Since beginning of last month:
- Site-wide: 132,514
Meta-analysis of Scandinavian Schizophrenia Exomes
genetics more details view paper- Downloaded 447 times
- Download rankings, all-time:
- Site-wide: 59,438
- In genetics: 2,762
- Year to date:
- Site-wide: 58,028
- Since beginning of last month:
- Site-wide: 75,730
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
- Download rankings, all-time:
- Site-wide: 60,725
- In genomics: 4,463
- Year to date:
- Site-wide: 9,158
- Since beginning of last month:
- Site-wide: 8,566
Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia
genetic and genomic medicine more details view paper- Downloaded 381 times
- Download rankings, all-time:
- Site-wide: 69,558
- In genetic and genomic medicine: 232
- Year to date:
- Site-wide: 4,090
- Since beginning of last month:
- Site-wide: 1,072
Clinical conditions and their impact on utility of genetic scores for prediction of acute coronary syndrome
cardiovascular medicine more details view paper- Downloaded 206 times
- Download rankings, all-time:
- Site-wide: 105,534
- In cardiovascular medicine: 220
- Year to date:
- Site-wide: 64,881
- Since beginning of last month:
- Site-wide: 42,802
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