Article
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Nature communications - 7 Nov 2022
Macken William L, Falabella Micol, McKittrick Caroline, Pizzamiglio Chiara, Ellmers Rebecca, Eggleton Kelly, Woodward Cathy E, Patel Yogen, Labrum Robyn, Phadke Rahul, Reilly Mary M, DeVile Catherine, Sarkozy Anna, Footitt Emma, Davison James, Rahman Shamima, Houlden Henry, Bugiardini Enrico, Quinlivan Rosaline, Hanna Michael G, Vandrovcova Jana, Pitceathly Robert D S
Abstract excerpt
Diagnostic whole genome sequencing (WGS) is increasingly used in rare diseases. However, standard, semi-automated WGS analysis may overlook diagnoses in complex disorders. Here, we show that specialist multidisciplinary analysis of WGS, following an initial 'no primary findings' (NPF) report, improves diagnostic rates and alters management. We undertook WGS in 102 adults with diagnostically challenging primary...
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