Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidisciplinary team.

Dades bibliogràfiques

Autors principals:	William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2022-11-01
Col·lecció:	Nature Communications
Accés en línia:	https://doi.org/10.1038/s41467-022-32908-7
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