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Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

Steven Gazal, Omer Weissbrod, Farhad Hormozdiari, Kushal K. Dey, Joseph Nasser, Karthik A. Jagadeesh, Daniel J. Weiner, Huwenbo Shi, Charles P. Fulco, Luke J. O’Connor,

Nature Genetics · 2022 · 195 citations · 72 references

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72

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

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The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature · 2018 · 9.7K citations · Full text

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Integrative analysis of 111 reference human epigenomes

Anshul Kundaje, Wouter Meuleman, Jason Ernst et al. · Nature · 2015 · 7.1K citations · Full text

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Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

Nuala A. O’Leary, Matt W. Wright, J. Rodney Brister et al. · Nucleic Acids Research · 2015 · 7.1K citations · Full text

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