The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Rehm, H. L., Alaimo, J. T., Aradhya, S., Bayrak-Toydemir, P., Best, H., Brandon, R., Buchan, J. G., Chao, E. C., Chen, E., Clifford, J., Cohen, A. S. A., Conlin, L. K., Das, S., Davis, K. W., del Gaudio, D., Del Viso, F., DiVincenzo, C., Eisenberg, M., Guidugli, L., … Rehm, H. (2023). The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genetics in Medicine, 25(12), 100947. https://doi.org/10.1016/j.gim.2023.100947
Authors:
Heidi L. Rehm
Joseph T. Alaimo
Swaroop Aradhya
Pinar Bayrak-Toydemir
Hunter Best
Rhonda Brandon
Jillian G. Buchan
Elizabeth C. Chao
Elaine Chen
Jacob Clifford
Ana S.A. Cohen
Laura K. Conlin
Soma Das
Kyle W. Davis
Daniela del Gaudio
Florencia Del Viso
Christina DiVincenzo
Marcia Eisenberg
Lucia Guidugli
Monia B. Hammer
Steven M. Harrison
Kathryn E. Hatchell
Lindsay Havens Dyer
Lily U. Hoang
James M. Holt
Vaidehi Jobanputra
Izabela D. Karbassi
Hutton M. Kearney
Melissa A. Kelly
Jacob M. Kelly
Michelle L. Kluge
Timothy Komala
Paul Kruszka
Lynette Lau
Matthew S. Lebo
Christian R. Marshall
Dianalee McKnight
Kirsty McWalter
Yan Meng
Narasimhan Nagan
Christian S. Neckelmann
Nir Neerman
Zhiyv Niu
Vitoria K. Paolillo
Sarah A. Paolucci
Denise Perry
Tina Pesaran
Kelly Radtke
Kristen J. Rasmussen
Kyle Retterer
Carol J. Saunders
Elizabeth Spiteri
Christine Stanley
Anna Szuto
Ryan J. Taft
Isabelle Thiffault
Brittany C. Thomas
Amanda Thomas-Wilson
Erin Thorpe
Timothy J. Tidwell
Meghan C. Towne
Hana Zouk
Christian Marshall
Linyan Meng
Ryan Taft
Euan Ashley
Ghunwa Nakouzi
Wei Shen
Stephen Kingsmore
Affiliated Authors:
Vaidehi Jobanputra
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Studies and Association Analyses (OpenAlex Topic)
Genetic Research on BRCA Mutations and Cancer Risk (OpenAlex Topic)
Genetic Predisposition to Disease (MeSH)
Genetic Testing (MeSH)
Author Keywords:
laboratory reporting methods
multi-gene panels
vus
variants of uncertain significance
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100947
PMID:
37534744
DOI:
10.1016/j.gim.2023.100947
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View OpenAlex Record

Record Created: