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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2012
Pynciau:
Mynediad Ar-lein: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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