Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

Copy number variation (CNV) is an important determinant of human diversity and plays important roles in susceptibility to disease. Most studies of CNV carried out to date have made use of chromosome microarray and have had a lower size limit for detection of about 30 kilobases (kb). With the emergen...

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Hlavní autoři: Poultney, Christopher S., Goldberg, Arthur P., Drapeau, Elodie, Kou, Yan, Harony-Nicolas, Hala, Kajiwara, Yuji, De Rubeis, Silvia, Durand, Simon, Stevens, Christine, Rehnström, Karola, Palotie, Aarno, Daly, Mark J., Ma’ayan, Avi, Fromer, Menachem, Buxbaum, Joseph D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791269/
https://ncbi.nlm.nih.gov/pubmed/24094742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.09.001
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