Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer.

ABSTRACT: The goal of biomarker testing, in the field of personalized medicine, is to guide treatments to achieve the best possible results for each patient. The accurate and reliable identification of everyone's genome variants is essential for the success of clinical genomics, employing third-generation sequencing. Different variant calling techniques have been used and recommended by both Oxford Nanopore Technologies (ONT) and Nanopore communities. A thorough examination of the variant callers might give critical guidance for third-generation sequencing-based clinical genomics. In this study, two reference genome sample datasets (NA12878) and (NA24385) and the set of high-confidence variant calls provided by the Genome in a Bottle (GIAB) were used to allow the evaluation of the performance of six

SUBMITTER: Helal AA 

PROVIDER: S-EPMC9498802 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature