Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker(University of Otago), Miguel de la Hoya(Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), George A. R. Wiggins(University of Otago), Amanda Lindy, Lisa M. Vincent(Natera (United States)), Michael T. Parsons(QIMR Berghofer Medical Research Institute), Daffodil M. Canson(QIMR Berghofer Medical Research Institute), Dana M. Bis‐Brewer, Ashley Cass(Ambry Genetics (United States)), Alexander Tchourbanov(Ambry Genetics (United States)), Heather Zimmermann(Ambry Genetics (United States)), Alicia B. Byrne(Broad Institute), Tina Pesaran(Ambry Genetics (United States)), Rachid Karam(Ambry Genetics (United States)), Steven M. Harrison(Broad Institute), Amanda B. Spurdle(The University of Queensland), Leslie G. Biesecker, Steven M. Harrison(Broad Institute), Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran(Ambry Genetics (United States)), Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper
The American Journal of Human Genetics
June 22, 2023
Cited by 294Open Access
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