Genotyping of selected germline adaptive immune system loci using short-read sequencing data.

ABSTRACT: As we enter the age of personalized medicine, healthcare is increasingly focused on tailoring diagnoses and treatments based on patients' genetic and environmental circumstances. A critical component of a person's physiological makeup is their immune system, but individual genetic variation in many immune system genes has remained resistant to analysis using classical whole-genome or targeted sequencing approaches. In particular, germline adaptive immune system genes, like immunoglobulin (IG) and T cell receptor (TR) genes, are particularly hard to genotype using classic reference-based methods owing to their highly repetitive and homologous nature. In this paper, we present ImmunoTyper2, a new computational toolkit for genotyping the variable genes of the IG lambda an

SUBMITTER: Ford MKB 

PROVIDER: S-EPMC12401057 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature