Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may represent complete loss-of-function of the indicated gene. HMZDelFinder was applied to 4866 samples in the Baylor–Hopkins Center for...

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Publicat a:Nucleic Acids Res
Autors principals: Gambin, Tomasz, Akdemir, Zeynep C., Yuan, Bo, Gu, Shen, Chiang, Theodore, Carvalho, Claudia M.B., Shaw, Chad, Jhangiani, Shalini, Boone, Philip M., Eldomery, Mohammad K., Karaca, Ender, Bayram, Yavuz, Stray-Pedersen, Asbjørg, Muzny, Donna, Charng, Wu-Lin, Bahrambeigi, Vahid, Belmont, John W., Boerwinkle, Eric, Beaudet, Arthur L., Gibbs, Richard A., Lupski, James R.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2017
Matèries:
Computational Biology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389578/
https://ncbi.nlm.nih.gov/pubmed/27980096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw1237
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