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BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN

Recent studies on copy number variation (CNV) have suggested that an increasing burden of CNVs is associated with susceptibility or resistance to disease. A large number of genes or genomic loci contribute to complex diseases such as autism. Thus, total genomic copy number burden, as an accumulation...

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Detalhes bibliográficos
Publicado no:Pac Symp Biocomput
Main Authors: KIM, DOKYOON, LUCAS, ANASTASIA, GLESSNER, JOSEPH, VERMA, SHEFALI S., BRADFORD, YUKI, LI, RUOWANG, FRASE, ALEX T., HAKONARSON, HAKON, PEISSIG, PEGGY, BRILLIANT, MURRAY, RITCHIE, MARYLYN D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4722964/
https://ncbi.nlm.nih.gov/pubmed/26776200
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