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Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut

2017; BioMed Central; Volume: 18; Issue: 1 Linguagem: Inglês

10.1186/s12859-017-1492-4

1471-2105

Orsolya Pipek, Dezső Ribli, J. Molnár, Ádám Póti, Marcin Krzystanek, A. Bodor, Gábor Tusnády, Zoltán Szállási, István Csabai, Dávid Szüts,

Molecular Biology Techniques and Applications

Detection of somatic mutations is one of the main goals of next generation DNA sequencing. A wide range of experimental systems are available for the study of spontaneous or environmentally induced mutagenic processes. However, most of the routinely used mutation calling algorithms are not optimised for the simultaneous analysis of multiple samples, or for non-human experimental model systems with no reliable databases of common genetic variations. Most standard tools either require numerous in-house post filtering steps with scarce documentation or take an unpractically long time to run. To overcome these problems, we designed the streamlined IsoMut tool which can be readily adapted to experimental scenarios where the goal is the identification of experimentally induced mutations in multiple isogenic samples.