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Article

Validity of whole genomes sequencing results in neoplasms in precision medicine.

Journal of clinical pathology - 1 Nov 2021

Echejoh Godwins, Liu Yiwen, Chung-Faye Guy, Charlton Jessica, Moorhead Jane, Clark Barnaby, Davidson Philip, Sarker Debashis, Ross Paul, Ooft Marc Lucas

Abstract excerpt

OBJECTIVE: To compare the whole genomes sequencing (WGS) results in the 100K Genomes project with the results of routine molecular diagnostics in precision medicine. MATERIALS AND METHODS: We analysed 374 cancers including a high tumour mutational burden (TMB-high) subgroup, defined as >10 non-synonymous single nucleotide variations per megabase. Colon cancers were evaluated for microsatellite instability (MSI),...

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Identifiers

PMID: 33122190
DOI: 10.1136/jclinpath-2020-206998

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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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