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Article

Diagnostic cancer genome sequencing and the contribution of germline variants.

Science (New York, N.Y.) - 29 Mar 2013

Kilpivaara O, Aaltonen L A

Abstract excerpt

Whole-genome sequencing (WGS) is revolutionizing medical research and has the potential to serve as a powerful and cost-effective diagnostic tool in the management of cancer. We review the progress to date in the use of WGS to reveal how germline variants and mutations may be associated with cancer. We use colorectal cancer as an example of how the current level of knowledge can be translated into predictions of...

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PMID: 23539595
DOI: 10.1126/science.1233899

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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