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Human germline and pan-cancer variomes and their distinct functional profiles.

Nucleic acids research - 1 Oct 2014

Pan Yang, Karagiannis Konstantinos, Zhang Haichen, Dingerdissen Hayley, Shamsaddini Amirhossein, Wan Quan, Simonyan Vahan, Mazumder Raja

Abstract excerpt

Identification of non-synonymous single nucleotide variations (nsSNVs) has exponentially increased due to advances in Next-Generation Sequencing technologies. The functional impacts of these variations have been difficult to ascertain because the corresponding knowledge about sequence functional sites is quite fragmented. It is clear that mapping of variations to sequence functional features can help us better...

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Identifiers

PMID: 25232094
DOI: 10.1093/nar/gku772
PMCID: PMC4191387

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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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