Editorial: NGS technologies of rare diseases diagnosis
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference14 articles.
1. OMIM.Org: online Mendelian inheritance in man (OMIM(R)), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res,2015
2. Paediatric genomics: diagnosing rare disease in children;Wright;Nat Rev Genet,2018
3. Rapid phenotype-driven gene sequencing with the NeoSeq panel: a diagnostic tool for critically ill newborns with suspected genetic disease;de Castro;J Clin Med,2020
4. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders;Stark;Genet Med,2016
5. Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system;Lunke;JAMA,2020
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