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Improving diagnostics of rare genetic diseases with NGS approaches

According to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare diseases is still challenging. Introduction of novel methods based on next-generation sequencing (NGS) technology o...

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Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: Vinkšel, Mateja, Writzl, Karin, Maver, Aleš, Peterlin, Borut
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8141085/
https://ncbi.nlm.nih.gov/pubmed/33452619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-020-00500-5
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