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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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2013
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Article
Online adgang: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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