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Disease gene identification strategies for exome sequencing
Next generation sequencing can be used to search for Mendelian disease genes in an unbiased manner by sequencing the entire protein-coding sequence, known as the exome, or even the entire human genome. Identifying the pathogenic mutation amongst thousands to millions of genomic variants is a major c...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3330229/ https://ncbi.nlm.nih.gov/pubmed/22258526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.258 |
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