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

Published in:

Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2

By:

• 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.;
• On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group;
• Brenner, Steven E.;
• Ellard, Sian;
• Karbassi, Izabela;
• Karchin, Rachel

Publication type:

Article