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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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Bibliografiske detaljer
Udgivet i:J Community Genet
Main Authors: Vinkšel, Mateja, Writzl, Karin, Maver, Aleš, Peterlin, Borut
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2021
Fag:
Online adgang: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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