Article

find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences

2020-11-23

Abstract excerpt

<h4>Motivation</h4> Whole-genome DNA sequencing (WGS) enables the discovery of non-coding variants, but tools are lacking to prioritize the subset that functionally impacts human phenotypes. DNA sequence variants that disrupt or create transcription factor binding sites (TFBS) can modulate gene expression. find-tfbs efficiently scans phased WGS in large cohorts to identify and count TFBSs in regulatory sequences....

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Literature Corpus work: 18894e0a-b84f-5788-a85e-90818f5ff352
DOI: 10.1101/2020.11.23.394296

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