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Article

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Science (New York, N.Y.) - 30 Apr 2010

Roach Jared C, Glusman Gustavo, Smit Arian F A, Huff Chad D, Hubley Robert, Shannon Paul T, Rowen Lee, Pant Krishna P, Goodman Nathan, Bamshad Michael, Shendure Jay, Drmanac Radoje, Jorde Lynn B, Hood Leroy, Galas David J

Abstract excerpt

We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate recombination sites precisely, identify 70% of the sequencing errors (resulting in > 99.999% accuracy), and identify very rare single-nucleotid...

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Identifiers

PMID: 20220176
DOI: 10.1126/science.1186802
PMCID: PMC3037280

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20220176-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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