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Article

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

American journal of human genetics - 3 Oct 2013

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

Abstract excerpt

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 emergence of whole-exome sequencing studies, we asked whether such data could be used to reliably call rare exonic CNV in...

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PMID: 24094742
DOI: 10.1016/j.ajhg.2013.09.001
PMCID: PMC3791269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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