Journal article
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Authors
Hartley T; Marshall D; Acker M; Fooks K; Gillespie MK; Price EM; Graham ID; White-Brown A; MacKay L; Macdonald SK
Journal
GENETICS IN MEDICINE, Vol. 26, No. 2,
Publisher
ELSEVIER SCIENCE INC
Publication Date
February 2024
DOI
10.1016/j.gim.2023.101012
ISSN
1098-3600