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Author: Francis S Collins

Rankings

  • All-time downloads: 24,775 (rank: 4,969 (tie) out of 513,872)
  • Categories:
    • biochemistry: 2,334 (rank: 1,015 (tie) out of 21,524)
    • genetic and genomic medicine: 1,181 (rank: 858 out of 6,816)
    • genetics: 12,486 (rank: 1,084 out of 38,823)
    • genomics: 8,774 (rank: 1,995 (tie) out of 45,850)

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Preprints

A reference panel of 64,976 haplotypes for genotype imputation

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

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Biotinylation by antibody recognition - A novel method for proximity labeling

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

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Single cell ATAC-seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures

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

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

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

genomics more details view paper
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BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues

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

genetics more details view paper
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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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
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A transcription start site map in human pancreatic islets reveals functional regulatory signatures

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EndoC-βH1 multi-genomic profiling defines gene regulatory programs governing human pancreatic β cell identity and function

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Interactions between genetic variation and cellular environment in skeletal muscle gene expression

genetics more details view paper
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

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