Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders

PURPOSE: Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalysing previously generated genomic sequence data in light of new knowledge. METHODS: We tested this hypothesis in the UK-wide Deciphering Develo...

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Udgivet i:Genet Med
Main Authors: Wright, Caroline F., McRae, Jeremy F., Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W., Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J., Barrett, Jeffrey C., Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5912505/
https://ncbi.nlm.nih.gov/pubmed/29323667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.246
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