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The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders

There are an estimated 6000–8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have...

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Dettagli Bibliografici
Pubblicato in:Genet Res (Camb)
Autori principali: SHEN, TONY, LEE, ARIEL, SHEN, CAROL, LIN, C.JIMMY
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cambridge University Press 2015
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6863629/
https://ncbi.nlm.nih.gov/pubmed/26365496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672315000166
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