… ) bioinformatic analysis design for detecting genetic variation, (2) the resources for assessing
genetic effects, (3) analysis … BAM files can test the accuracy of detecting somatic mutations. …

… Our findings highlight the benefit of using orthogonal clinical bioinformatic pipelines and
all relevant inheritance patterns to re-analyze genomic data in undiagnosed patients. …

… pipeline modifications and a new variant caller, AbsoluteVar, we have been able to validate
SNV mutation detection … as they progressed through the bioinformatic analysis pipeline. This …

… length should be reliably detected by most NGS bioinformatics pipelines and comprise the …
now reporting mutational signatures (eg, microsatellite instability and tumor mutation burden) …

… We aimed to develop a pipeline which detects a wide range of single nucleotide mutations
with … validation rate (90 %) for mutation detection, but limited number of somatic mutations …

… performance of leading bioinformatic tools designed for RNA-Seq analysis and propose a
… well as the verification of the mutation. For SNVs we evaluate the mutated sequence and for …

… mutations in the different target sites. The aim of this study was to develop a reliable bioinformatic
pipeline for the analysis … The suggested bioinformatic pipeline combines the available …

… Efficient identification of relevant mutations also strongly depends on the sufficient read depth
… of a robust bioinformatic pipeline for the analysis of clinically relevant molecular markers …

… bioinformatics pipelines to detect variants from raw sequencing data. Moreover, appropriate
reference data sets are lacking for clinical bioinformatics pipeline … somatic mutation detection …

… Next, the NGS analytical bioinformatic pipelines are dissected… Finally, the main challenges
around NGS bioinformatics are … and bioinformatics, further improvements in bioinformatic …