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Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

Next-generation sequencing (NGS) technologies can be a boon to human mutation detection given their high throughput: consequently, many genes and samples may be simultaneously studied with high coverage for accurate detection of heterozygotes. In circumstances requiring the intensive study of a few...

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Autors principals: Jiang, Qian, Turner, Tychele, Sosa, Maria X., Rakha, Ankit, Arnold, Stacey, Chakravarti, Aravinda
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3240684/
https://ncbi.nlm.nih.gov/pubmed/21898659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21602
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