Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

por Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.
Publicado 2019

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

por Brnich, Sarah E., Abou Tayoun, Ahmad N., Couch, Fergus J., Cutting, Garry R., Greenblatt, Marc S., Heinen, Christopher D., Kanavy, Dona M., Luo, Xi, McNulty, Shannon M., Starita, Lea M., Tavtigian, Sean V., Wright, Matt W., Harrison, Steven M., Biesecker, Leslie G., Berg, Jonathan S.
Publicado 2019