학술논문
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Document Type
article
Author
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
Source
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
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.