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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Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2013
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Article
Accés en línia: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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