An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

Motivation: Despite the prevalence of copy number variation (CNV) in the human genome, only a handful of confirmed associations have been reported between common CNVs and complex disease. This may be partially attributed to the difficulty in accurately genotyping CNVs in large cohorts using array-ba...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Coin, Lachlan J.M., Cao, Dandan, Ren, Jingjing, Zuo, Xianbo, Sun, Liangdan, Yang, Sen, Zhang, Xuejun, Cui, Yong, Li, Yingrui, Jin, Xin, Wang, Jun
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2012
Θέματα:
Original Papers
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436806/
https://ncbi.nlm.nih.gov/pubmed/22962454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bts379
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