A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes
Nick Kamps‐Hughes, Victoria E. H. Carlton, Laure Frésard, Steve Osazuwa, Elizabeth R. Starks, John J. Vincent, Sarah Albritton, Robert Luke Nussbaum, Keith Nykamp
SPEER identifies abnormal mRNA splicing and assesses its clinical impact in hereditary cancer syndrome genetic testing, reclassifying variants of uncertain significance.
Journal of Molecular Diagnostics · Dec 20, 2022Peer-reviewedGenetics