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Article

CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

Human mutation - 1 Sept 2017

Pal Lipika R, Kundu Kunal, Yin Yizhou, Moult John

Abstract excerpt

Compared with earlier more restricted sequencing technologies, identification of rare disease variants using whole-genome sequence has the possibility of finding all causative variants, but issues of data quality and an overwhelming level of background variants complicate the analysis. The CAGI4 SickKids clinical genome challenge provided an opportunity to assess the landscape of variants found in a difficult set...

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Identifiers

PMID: 28512736
DOI: 10.1002/humu.23257
PMCID: PMC5577808

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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