Performance of case-control rare copy number variation annotation in classification of autism

BACKGROUND: A substantial proportion of Autism Spectrum Disorder (ASD) risk resides in de novo germline and rare inherited genetic variation. In particular, rare copy number variation (CNV) contributes to ASD risk in up to 10% of ASD subjects. Despite the striking degree of genetic heterogeneity, ca...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Engchuan, Worrawat, Dhindsa, Kiret, Lionel, Anath C, Scherer, Stephen W, Chan, Jonathan H, Merico, Daniele
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4315323/
https://ncbi.nlm.nih.gov/pubmed/25783485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8794-8-S1-S7
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