Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates

Purpose: The clinical genomics knowledgebase is dynamic with variant classifications changing as newly identified cases, additional population data, and other evidence become available. This is a challenge for the clinical laboratory because of limited resource availability for variant reassessment....

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Bibliographic Details
Main Authors: Harley, J.B (Author), Hawley, M. (Author), Jarvik, G.P (Author), Karlson, E.W (Author), Koch, C. (Author), Lebo, M.S (Author), Leppig, K.A (Author), Mahanta, L.M (Author), Myers, M.F (Author), Oza, A. (Author), Prows, C.A (Author), Rehm, H.L (Author), Vijay Kumar, P.K (Author), Weiss, S.T (Author), Williams, M.S (Author), Yu, W. (Author), Zouk, H. (Author)
Format: Article
Language:English
Published: Elsevier B.V. 2022
Subjects:
adult
article
Automated variant reclassification alerts
clinical practice
electronic medical record
eMERGE
female
genetic predisposition
Genetic Predisposition to Disease
genetic screening
Genetic Testing
genetic variation
Genetic Variation
genetics
genomics
Genomics
human
human experiment
Humans
major clinical study
male
procedures
Variant reassessment framework
Variant reclassification
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