SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

ABSTRACT:

Motivation

Single-molecule molecular inversion probes (smMIPs) provide an exceptionally cost-effective and modular approach for routine or large-cohort next-generation sequencing. However, processing the derived raw data to generate highly accurate variants calls remains challenging.

Results

We introduce SmMIP-tools, a comprehensive computational method that promotes the detection of single nucleotide variants and short insertions and deletions from smMIP-based sequencing. Our approach delivered near-perfect performance when benchmarked against a set of known mutations in controlled experiments involving DNA dilutions and outperformed other commonly used computational methods for mutation detection. Comparison against clinically approved diagnostic testing of leukaemia patie

SUBMITTER: Medeiros JJF 

PROVIDER: S-EPMC9004652 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature