Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

PURPOSE: Detection of all major classes of genomic variants in a single test would decrease cost and increase the efficiency of genomic diagnostics. Genome sequencing (GS) has the potential to provide this level of comprehensive detection. We sought to demonstrate the utility of GS in the molecular...

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Bibliografiska uppgifter
I publikationen:Genet Med
Huvudupphovsmän: Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group US 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7862053/
https://ncbi.nlm.nih.gov/pubmed/33077891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00989-8
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