Benchmarking and improving the performance of variant-calling pipelines with RecallME.

ABSTRACT:

Motivation

The steady increment of Whole Genome/Exome sequencing and the development of novel Next Generation Sequencing-based gene panels requires continuous testing and validation of variant calling (VC) pipelines and the detection of sequencing-related issues to be maintained up-to-date and feasible for the clinical settings. State of the art tools are reliable when used to compute standard performance metrics. However, the need for an automated software to discriminate between bioinformatic and sequencing issues and to optimize VC parameters remains unmet.

Results

The aim of the current work is to present RecallME, a bioinformatic suite that tracks down difficult-to-detect variants as insertions and deletions in highly repetitive regions, thus providing the maximum reach

SUBMITTER: Vozza G 

PROVIDER: S-EPMC10748785 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature