Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Schmidt, R. J., Steeves, M., Bayrak-Toydemir, P., Benson, K. A., Coe, B. P., Conlin, L. K., Ganapathi, M., Garcia, J., Gollob, M. H., Jobanputra, V., Luo, M., Ma, D., Maston, G., McGoldrick, K., Palculict, T. B., Pesaran, T., Pollin, T. I., Qian, E., Rehm, H. L., … Fan, Y. (2024). Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in Medicine, 26(3), 101036. https://doi.org/10.1016/j.gim.2023.101036
Authors:
Ryan J Schmidt
Marcie Steeves
Pinar Bayrak-Toydemir
Katherine A Benson
Bradley P Coe
Laura K Conlin
Mythily Ganapathi
John Garcia
Michael H Gollob
Vaidehi Jobanputra
Minjie Luo
Deqiong Ma
Glenn Maston
Kelly McGoldrick
T Blake Palculict
Tina Pesaran
Toni I Pollin
Emily Qian
Heidi L Rehm
Erin R Riggs
Samantha L P Schilit
Panagiotis I Sergouniotis
Tatiana Tvrdik
Nicholas Watkins
Lauren Zec
Wenying Zhang
Matthew S Lebo
Affiliated Authors:
Mythily Ganapathi
Vaidehi Jobanputra
Subjects:
Author Keywords:
association studies
clinical disease risk assessment
penetrance
risk allele
variant classification
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.101036
PMID:
Publication Date:
Data Source:
PubMed

Record Created: