Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

doi:10.1038/gim.2017.246

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Article

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018

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

Abstract excerpt

PURPOSE: Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge. METHODS: We tested this hypothesis in the United Kingdom-wide Deciphering Developmental Disorders study, where in 2014 we reported a diagnostic yield of 27% through whole-exome...

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PMID: 29323667
DOI: 10.1038/gim.2017.246
PMCID: PMC5912505

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