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Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

2024-09-05

Abstract excerpt

Publicly available genomic databases and genetic constraint scores are crucial in understanding human population variation and the identification of variants that are likely to have a deleterious impact causing human disease. We utilized the one of largest publicly available databases, gnomAD, to determine genes that are highly constrained for only LoF, only missense, and both LoF/missense variants, identified the...

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Literature Corpus work
dd50f330-5c8c-506c-903d-abd1d4a27064
DOI
10.1101/2024.09.05.611529
Open publication

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Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic DatabasesDOI 10.1101/2024.09.05.611529
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