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Article

Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.

Briefings in bioinformatics - 1 Sept 2016

Shameer Khader, Tripathi Lokesh P, Kalari Krishna R, Dudley Joel T, Sowdhamini Ramanathan

Abstract excerpt

Accurate assessment of genetic variation in human DNA sequencing studies remains a nontrivial challenge in clinical genomics and genome informatics. Ascribing functional roles and/or clinical significances to single nucleotide variants identified from a next-generation sequencing study is an important step in genome interpretation. Experimental characterization of all the observed functional variants is yet...

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PMID: 26494363
DOI: 10.1093/bib/bbv084
PMCID: PMC6078163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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