Ontology highlight
ABSTRACT:
SUBMITTER: Rowlands CF
PROVIDER: S-EPMC6953098 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Rowlands Charlie F CF Baralle Diana D Ellingford Jamie M JM
Cells 20191126 12
Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the advent of next-generation sequencing, allowing a deeper insight into a patient's variant landscape, the ability to characterize variants causing splicing defects has not progressed with the same speed. To address this, recent years have seen a sharp spike in the number of splice prediction tools leveraging machine learning approaches, leaving clinical geneticists with a plethora of choices for in silico analysi ...[more]