Clinical feature-related single-base substitution sequence signatures identified with an unsupervised machine learning approach.
Journal:
BMC medical genomics
Published Date:
Dec 20, 2021
Abstract
BACKGROUND: Mutation processes leave different signatures in genes. For single-base substitutions, previous studies have suggested that mutation signatures are not only reflected in mutation bases but also in neighboring bases. However, because of the lack of a method to identify features of long sequences next to mutation bases, the understanding of how flanking sequences influence mutation signatures is limited.