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A curated gene list for reporting results of newborn genomic sequencing

PURPOSE: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact s...

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Dettagli Bibliografici
Pubblicato in:Genet Med
Autori principali: Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5507765/
https://ncbi.nlm.nih.gov/pubmed/28079900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.193
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