Author: Francis S Collins

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Preprints

Single-cell gene expression and chromatin accessibility profiling of human pancreatic islets at basal and stimulatory conditions nominates mechanisms of type 1 diabetes genetic risk

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A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

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

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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

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

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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

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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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BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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

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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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Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

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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

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Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.

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Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis

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