NIMBus: a negative binomial regression based Integrative Method for mutation Burden Analysis.

ABSTRACT:

Background

Identifying frequently mutated regions is a key approach to discover DNA elements influencing cancer progression. However, it is challenging to identify these burdened regions due to mutation rate heterogeneity across the genome and across different individuals. Moreover, it is known that this heterogeneity partially stems from genomic confounding factors, such as replication timing and chromatin organization. The increasing availability of cancer whole genome sequences and functional genomics data from the Encyclopedia of DNA Elements (ENCODE) may help address these issues.

Results

We developed a negative binomial regression-based Integrative Method for mutation Burden analysiS (NIMBus). Our approach addresses the over-dispersion of mutation count statistics by (

SUBMITTER: Zhang J 

PROVIDER: S-EPMC7580035 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature