Tag: American College of Medical Genetics

  • Clinical classification of the genes is based on genome editing

    Clinical classification of the genes is based on genome editing

    A study has shown that genome-wide variant effect prediction using deep learning-derived splice scores is possible for breast cancer-predisposition gene variantsCADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. The American College of Medical Genetics (ACMG)-AMP rule-based framework combines evidence from population, computational and predictive, segregation, functional and other data, with each contributing source…