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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

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 siz...

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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Guo, Xingyi, Delio, Maria, Haque, Nousin, Castellanos, Raquel, Hestand, Matthew S., Vermeesch, Joris R., Morrow, Bernice E., Zheng, Deyou
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5216616/
https://ncbi.nlm.nih.gov/pubmed/27436579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw221
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