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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Detalles Bibliográficos
Autores principales: Engchuan, Worrawat, Dhindsa, Kiret, Lionel, Anath C, Scherer, Stephen W, Chan, Jonathan H, Merico, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315323/
https://www.ncbi.nlm.nih.gov/pubmed/25783485
http://dx.doi.org/10.1186/1755-8794-8-S1-S7

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