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Massively parallel sequencing and rare disease

Massively parallel sequencing has enabled the rapid, systematic identification of variants on a large scale. This has, in turn, accelerated the pace of gene discovery and disease diagnosis on a molecular level and has the potential to revolutionize methods particularly for the analysis of Mendelian...

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Autors principals: Ng, Sarah B., Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2953741/
https://ncbi.nlm.nih.gov/pubmed/20846941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq390
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