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Article

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Human molecular genetics - 1 Sept 2016

Guo Xingyi, Delio Maria, Haque Nousin, Castellanos Raquel, Hestand Matthew S, Vermeesch Joris R, Morrow Bernice E, Zheng Deyou

Abstract excerpt

Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11.2DS) is caused by meiotic non-allelic homologous recombination events between flanking low copy repeats termed LCR22A and LCR22D, resulting in a 3 million base pair (Mb) deletion. Due to their complex structure, large size and high sequence identity, genetic variation within LCR22s among different individuals has not been well...

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PMID: 27436579
DOI: 10.1093/hmg/ddw221
PMCID: PMC5216616

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Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.PMID 27436579Read ↗

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