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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...
Autores principales: | Erzurumluoglu, A. Mesut, Rodriguez, Santiago, Shihab, Hashem A., Baird, Denis, Richardson, Tom G., Day, Ian N. M., Gaunt, Tom R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461748/ https://www.ncbi.nlm.nih.gov/pubmed/26106619 http://dx.doi.org/10.1155/2015/923491 |
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