Machine learning-based detection of insertions and deletions in the human genome
Charles Curnin, Rachel L. Goldfeder, Shruti Marwaha, Devon E. Bonner, Daryl M. Waggott, Undiagnosed Diseases Network, Matthew Thomas Wheeler, Euan Angus Ashley
This paper introduces machine learning tools for improved indel detection in the human genome, achieving high precision and recall in clinical applications.
bioRxiv · Dec 25, 2019 · PreprintBioinformatics