Article

SNPnotes: high-throughput tissue-specific functional annotation of single nucleotide variants

2019-10-22

Abstract excerpt

A key challenge in the application of whole-genome sequencing (WGS) for clinical diagnostic and research is the high-throughput prioritization of functional variants in the non-coding genome. This challenge is compounded by context-specific genetic modulation of gene expression, and variant-gene mapping depends on the tissues and organ systems affected in a given disease; for instance, a disease affecting the gast...

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Literature Corpus work: 9de57bf0-ce9b-5a83-bf72-63686a757d98
DOI: 10.12688/f1000research.20415.1

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