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Article

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Clinical genetics - 1 Jun 2020

Eaton Alison, Hartley Taila, Kernohan Kristin, Ito Yoko, Lamont Ryan, Parboosingh Jillian, Barrowman Nick, Innes A Micheil, Boycott Kym

Abstract excerpt

Exome sequencing (ES) is an effective diagnostic tool with a high yield in consanguineous families. However, how diagnostic yield and mode of inheritance relate to family structure has not been well delineated. We reviewed ES results from families enrolled in the Care4Rare Canada research consortium with various degrees of consanguinity. We contrasted the diagnostic yield in families with parents who are second...

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PMID: 32162313
DOI: 10.1111/cge.13736

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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