Directional allelic imbalance profiling and visualization from multi-sample data with RECUR.

ABSTRACT:

Motivation

Genetic analysis of cancer regularly includes two or more samples from the same patient. Somatic copy number alterations leading to allelic imbalance (AI) play a critical role in cancer initiation and progression. Directional analysis and visualization of the alleles in imbalance in multi-sample settings allow for inference of recurrent mutations, providing insights into mutation rates, clonality and the genomic architecture and etiology of cancer.

Results

The REpeat Chromosomal changes Uncovered by Reflection (RECUR) is an R application for the comparative analysis of AI profiles derived from SNP array and next-generation sequencing data. The algorithm accepts genotype calls and 'B allele' frequencies (BAFs) from at least two samples derived from the same individ

SUBMITTER: Jakubek YA 

PROVIDER: S-EPMC6596882 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature