When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families
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DOI: 10.1111/cge.13736
Abstract: 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… read more here.
Keywords: exome sequencing; consanguinity; outside autozygome; think outside ... See more keywords