Long deletion signatures in repetitive genomic regions track somatic evolution and enable sensitive detection of microsatellite instability
Qingli Guo, Jacob Househam, Eszter Lakatos, Salpie Nowinski, Ibrahim Al Bakir, Heather E. Grant, Vickna Balarajah, Christine S. Hughes, Luis Zapata, Hemant Mahendrakumar Kocher, Andrea Sottoriva, Ann‐Marie Baker, Ville Mustonen, Trevor A. Graham
This paper identifies long deletion signatures in repetitive regions as markers of microsatellite instability and develops a classifier to detect MSI in low-quality sequencing data.
bioRxiv · Oct 3, 2024 · PreprintBioinformatics