Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy.

ABSTRACT: A variety of techniques for DNA sequencing, such as specific gene sequencing, whole genome sequencing, or exome sequencing, are currently used to detect single nucleotide variations (SNVs). Although RNA-seq can be used to identify SNVs, studies that employ this approach are uncommon, and those that do often rely on outdated mapping methods or methods that are more suitable for genomic and exomic alignment. In this work, our aim is to apply modern RNA-seq specific alignment method in order to identify SNV in a cohort of HCMP patients, and characterize those SNV to gain insight into possible mechanisms of HCMP pathogenesis. The algorithm of identification of SNV based on transcriptomic sequencing data has been developed and evaluated. The algorithm was evaluated and the optimal quality thres

SUBMITTER: Chumakova A 

PROVIDER: S-EPMC12122699 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature