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Next Generation Sequencing Demands Next Generation Phenotyping

Next-Generation Sequencing (NGS) is the most powerful diagnostic tool since the roentgenogram. NGS will facilitate diagnosis on a massive scale –allowing interrogation of all genes in a single assay. It has been suggested that NGS will decrease the need for phenotyping in general, and medical geneti...

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Autori principali: Hennekam, Raoul CM, Biesecker, Leslie G
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3327792/
https://ncbi.nlm.nih.gov/pubmed/22457028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22048
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