Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process

Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). This wide range of methods and a diversity of file formats used in sequen...

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Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Erzurumluoglu, A. Mesut, Rodriguez, Santiago, Shihab, Hashem A., Baird, Denis, Richardson, Tom G., Day, Ian N. M., Gaunt, Tom R.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Review Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4461748/
https://ncbi.nlm.nih.gov/pubmed/26106619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/923491
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