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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Pac Symp Biocomput
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4722964/
https://ncbi.nlm.nih.gov/pubmed/26776200
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