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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912505/
https://www.ncbi.nlm.nih.gov/pubmed/29323667
http://dx.doi.org/10.1038/gim.2017.246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912505/
https://www.ncbi.nlm.nih.gov/pubmed/29323667
http://dx.doi.org/10.1038/gim.2017.246

Ejemplares similares