Challenges of diagnostic exome sequencing in an inbred founder population

Challenges of diagnostic exome sequencing in an inbred founder population

Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with mul...

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Bibliographic Details
Main Authors: Azmanov, Dimitar N, Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Format: Online
Language:English
Published: Blackwell Publishing Ltd 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865571/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865571/

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