Rxivist logo

Author: Mark I. McCarthy

Rankings

  • All-time downloads: 80,278 (rank: 1,604 )
  • Categories:
    • bioinformatics: 3,846 (rank: 2,993 (tie) )
    • cancer biology: 828 (rank: 8,548 (tie) )
    • endocrinology: 698 (rank: 120 )
    • epidemiology: 621 (rank: 11,064 (tie) )
    • genetic and genomic medicine: 3,892 (rank: 136 )
    • genetics: 37,394 (rank: 131 )
    • genomics: 32,999 (rank: 252 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,925 times
  • Download rankings, all-time:
    • Site-wide: 278
    • In genomics: 11
  • Year to date:
    • Site-wide: 30,709
  • Since beginning of last month:
    • Site-wide: 31,932

Detection of human adaptation during the past 2,000 years

genetics more details view paper
  • Downloaded 16,460 times
  • Download rankings, all-time:
    • Site-wide: 374
    • In genetics: 10
  • Year to date:
    • Site-wide: 66,346
  • Since beginning of last month:
    • Site-wide: 30,404

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

genomics more details view paper
  • Downloaded 3,212 times
  • Download rankings, all-time:
    • Site-wide: 3,325
    • In genomics: 392
  • Year to date:
    • Site-wide: 64,444
  • Since beginning of last month:
    • Site-wide: 93,113

Genome-wide association study identifies 48 common genetic variants associated with handedness

genetics more details view paper
  • Downloaded 2,476 times
  • Download rankings, all-time:
    • Site-wide: 4,820
    • In genetics: 233
  • Year to date:
    • Site-wide: 18,574
  • Since beginning of last month:
    • Site-wide: 15,714

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

genetics more details view paper
  • Downloaded 1,842 times
  • Download rankings, all-time:
    • Site-wide: 7,461
    • In genetics: 370
  • Year to date:
    • Site-wide: 27,085
  • Since beginning of last month:
    • Site-wide: 101,435

Identification of type 2 diabetes loci in 433,540 East Asian individuals

genetics more details view paper
  • Downloaded 1,756 times
  • Download rankings, all-time:
    • Site-wide: 7,995
    • In genetics: 401
  • Year to date:
    • Site-wide: 19,873
  • Since beginning of last month:
    • Site-wide: 31,757

An Effector Index to Predict Causal Genes at GWAS Loci

bioinformatics more details view paper
  • Downloaded 1,739 times
  • Download rankings, all-time:
    • Site-wide: 8,130
    • In bioinformatics: 1,019
  • Year to date:
    • Site-wide: 16,382
  • Since beginning of last month:
    • Site-wide: 9,321

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

genetics more details view paper
  • Downloaded 1,629 times
  • Download rankings, all-time:
    • Site-wide: 9,008
    • In genetics: 458
  • Year to date:
    • Site-wide: 59,075
  • Since beginning of last month:
    • Site-wide: 70,183

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

genetics more details view paper
  • Downloaded 1,627 times
  • Download rankings, all-time:
    • Site-wide: 9,030
    • In genetics: 459
  • Year to date:
    • Site-wide: 81,743
  • Since beginning of last month:
    • Site-wide: 38,033

Improving reporting standards for polygenic scores in risk prediction studies

genetic and genomic medicine more details view paper
  • Downloaded 1,606 times
  • Download rankings, all-time:
    • Site-wide: 9,218
    • In genetic and genomic medicine: 27
  • Year to date:
    • Site-wide: 3,885
  • Since beginning of last month:
    • Site-wide: 5,351

Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes

genomics more details view paper
  • Downloaded 1,522 times
  • Download rankings, all-time:
    • Site-wide: 9,966
    • In genomics: 1,130
  • Year to date:
    • Site-wide: 22,081
  • Since beginning of last month:
    • Site-wide: 58,222

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,431 times
  • Download rankings, all-time:
    • Site-wide: 10,903
    • In genomics: 1,231
  • Year to date:
    • Site-wide: 78,983
  • Since beginning of last month:
    • Site-wide: 102,201

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

genetics more details view paper
  • Downloaded 1,392 times
  • Download rankings, all-time:
    • Site-wide: 11,382
    • In genetics: 582
  • Year to date:
    • Site-wide: 85,846
  • Since beginning of last month:
    • Site-wide: 61,479

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

bioinformatics more details view paper
  • Downloaded 1,384 times
  • Download rankings, all-time:
    • Site-wide: 11,475
    • In bioinformatics: 1,445
  • Year to date:
    • Site-wide: 85,212
  • Since beginning of last month:
    • Site-wide: 92,514

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

genomics more details view paper
  • Downloaded 1,224 times
  • Download rankings, all-time:
    • Site-wide: 13,813
    • In genomics: 1,495
  • Year to date:
    • Site-wide: 67,635
  • Since beginning of last month:
    • Site-wide: 97,798

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

genetics more details view paper
  • Downloaded 1,176 times
  • Download rankings, all-time:
    • Site-wide: 14,636
    • In genetics: 762
  • Year to date:
    • Site-wide: 100,525
  • Since beginning of last month:
    • Site-wide: 79,522

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.

genomics more details view paper
  • Downloaded 1,152 times
  • Download rankings, all-time:
    • Site-wide: 15,095
    • In genomics: 1,628
  • Year to date:
    • Site-wide: 20,593
  • Since beginning of last month:
    • Site-wide: 26,982

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

genetics more details view paper
  • Downloaded 1,152 times
  • Download rankings, all-time:
    • Site-wide: 15,092
    • In genetics: 780
  • Year to date:
    • Site-wide: 87,096
  • Since beginning of last month:
    • Site-wide: 72,823

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

genetics more details view paper
  • Downloaded 1,112 times
  • Download rankings, all-time:
    • Site-wide: 15,954
    • In genetics: 823
  • Year to date:
    • Site-wide: 71,841
  • Since beginning of last month:
    • Site-wide: 69,447

A multi-omic integrative scheme characterizes tissues of action at loci associated with type 2 diabetes

genetics more details view paper
  • Downloaded 1,016 times
  • Download rankings, all-time:
    • Site-wide: 18,297
    • In genetics: 929
  • Year to date:
    • Site-wide: 43,688
  • Since beginning of last month:
    • Site-wide: 38,837

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

genetics more details view paper
  • Downloaded 1,006 times
  • Download rankings, all-time:
    • Site-wide: 18,571
    • In genetics: 940
  • Year to date:
    • Site-wide: 48,271
  • Since beginning of last month:
    • Site-wide: 44,830

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

genomics more details view paper
  • Downloaded 990 times
  • Download rankings, all-time:
    • Site-wide: 19,022
    • In genomics: 1,976
  • Year to date:
    • Site-wide: 64,691
  • Since beginning of last month:
    • Site-wide: 104,338

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

genetic and genomic medicine more details view paper
  • Downloaded 914 times
  • Download rankings, all-time:
    • Site-wide: 21,326
    • In genetic and genomic medicine: 61
  • Year to date:
    • Site-wide: 3,630
  • Since beginning of last month:
    • Site-wide: 5,830

Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma

cancer biology more details view paper
  • Downloaded 828 times
  • Download rankings, all-time:
    • Site-wide: 24,557
    • In cancer biology: 617
  • Year to date:
    • Site-wide: 73,524
  • Since beginning of last month:
    • Site-wide: 39,951

A general framework for predicting the transcriptomic consequences of non-coding variation

genetics more details view paper
  • Downloaded 801 times
  • Download rankings, all-time:
    • Site-wide: 25,697
    • In genetics: 1,291
  • Year to date:
    • Site-wide: 47,371
  • Since beginning of last month:
    • Site-wide: 95,659

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

genetics more details view paper
  • Downloaded 764 times
  • Download rankings, all-time:
    • Site-wide: 27,421
    • In genetics: 1,385
  • Year to date:
    • Site-wide: 28,732
  • Since beginning of last month:
    • Site-wide: 24,384

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
  • Downloaded 743 times
  • Download rankings, all-time:
    • Site-wide: 28,555
    • In genetic and genomic medicine: 76
  • Year to date:
    • Site-wide: 14,908
  • Since beginning of last month:
    • Site-wide: 17,018

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

bioinformatics more details view paper
  • Downloaded 723 times
  • Download rankings, all-time:
    • Site-wide: 29,654
    • In bioinformatics: 3,429
  • Year to date:
    • Site-wide: 96,828
  • Since beginning of last month:
    • Site-wide: 114,287

A multi-tissue transcriptome analysis of human metabolites guides the interpretability of associations based on multi-SNP models for gene expression

genomics more details view paper
  • Downloaded 700 times
  • Download rankings, all-time:
    • Site-wide: 30,928
    • In genomics: 2,797
  • Year to date:
    • Site-wide: 108,204
  • Since beginning of last month:
    • Site-wide: 82,287

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 665 times
  • Download rankings, all-time:
    • Site-wide: 33,163
    • In genetics: 1,653
  • Year to date:
    • Site-wide: 11,148
  • Since beginning of last month:
    • Site-wide: 11,284

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

genetics more details view paper
  • Downloaded 664 times
  • Download rankings, all-time:
    • Site-wide: 33,232
    • In genetics: 1,659
  • Year to date:
    • Site-wide: 54,081
  • Since beginning of last month:
    • Site-wide: 40,536

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

genomics more details view paper
  • Downloaded 616 times
  • Download rankings, all-time:
    • Site-wide: 36,662
    • In genomics: 3,159
  • Year to date:
    • Site-wide: 58,707
  • Since beginning of last month:
    • Site-wide: 92,231

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

genetics more details view paper
  • Downloaded 502 times
  • Download rankings, all-time:
    • Site-wide: 47,189
    • In genetics: 2,280
  • Year to date:
    • Site-wide: 85,576
  • Since beginning of last month:
    • Site-wide: 113,455

Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation

endocrinology more details view paper
  • Downloaded 499 times
  • Download rankings, all-time:
    • Site-wide: 47,474
    • In endocrinology: 22
  • Year to date:
    • Site-wide: 23,631
  • Since beginning of last month:
    • Site-wide: 41,078

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

genetics more details view paper
  • Downloaded 485 times
  • Download rankings, all-time:
    • Site-wide: 49,024
    • In genetics: 2,376
  • Year to date:
    • Site-wide: 1,081
  • Since beginning of last month:
    • Site-wide: 1,392

Predicting and elucidating the etiology of fatty liver disease using a machine learning-based approach: an IMI DIRECT study

genetic and genomic medicine more details view paper
  • Downloaded 391 times
  • Download rankings, all-time:
    • Site-wide: 61,596
    • In genetic and genomic medicine: 172
  • Year to date:
    • Site-wide: 73,055
  • Since beginning of last month:
    • Site-wide: 36,441

Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study

genetics more details view paper
  • Downloaded 386 times
  • Download rankings, all-time:
    • Site-wide: 62,446
    • In genetics: 2,978
  • Year to date:
    • Site-wide: 60,231
  • Since beginning of last month:
    • Site-wide: 49,741

Analysis of overlapping genetic association in type 1 and type 2 diabetes

genetics more details view paper
  • Downloaded 340 times
  • Download rankings, all-time:
    • Site-wide: 69,961
    • In genetics: 3,306
  • Year to date:
    • Site-wide: 4,382
  • Since beginning of last month:
    • Site-wide: 16,767

Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium

epidemiology more details view paper
  • Downloaded 320 times
  • Download rankings, all-time:
    • Site-wide: 73,587
    • In epidemiology: 3,002
  • Year to date:
    • Site-wide: 111,560
  • Since beginning of last month:
    • Site-wide: 117,752

Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a Mendelian randomization analysis using outcomes in first-degree relatives

epidemiology more details view paper
  • Downloaded 301 times
  • Download rankings, all-time:
    • Site-wide: 77,070
    • In epidemiology: 3,125
  • Year to date:
    • Site-wide: 40,207
  • Since beginning of last month:
    • Site-wide: 21,038

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

genetic and genomic medicine more details view paper
  • Downloaded 238 times
  • Download rankings, all-time:
    • Site-wide: 89,916
    • In genetic and genomic medicine: 297
  • Year to date:
    • Site-wide: 16,090
  • Since beginning of last month:
    • Site-wide: 8,988

Multifaceted genome-wide study identifies novel regulatory loci for body mass index in Indians

genomics more details view paper
  • Downloaded 227 times
  • Download rankings, all-time:
    • Site-wide: 92,482
    • In genomics: 5,688
  • Year to date:
    • Site-wide: 78,694
  • Since beginning of last month:
    • Site-wide: 105,525

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 199 times
  • Download rankings, all-time:
    • Site-wide: 98,349
    • In endocrinology: 67
  • Year to date:
    • Site-wide: 16,812
  • Since beginning of last month:
    • Site-wide: 27,338

Common maternal and fetal genetic variants show expected polygenic effects on the probability of being born small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies

genetics more details view paper
  • Downloaded 143 times
  • Download rankings, all-time:
    • Site-wide: 109,401
    • In genetics: 4,858
  • Year to date:
    • Site-wide: 87,134
  • Since beginning of last month:
    • Site-wide: 61,374

PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News