Saturation-scale functional evidence supports clinical variant interpretation in Lynch Syndrome
Anthony J. Scott, Felicia Hernandez, Adam C. Chamberlin, Cathy Smith, Rachid Karam, Jacob Otto Kitzman
This study uses high-throughput functional assays to reclassify variants of uncertain significance in Lynch Syndrome, improving variant interpretation and clinical outcomes.
Genome biology · Dec 22, 2022Peer-reviewedGenetic & Genomic Medicine