DR2S: an integrated algorithm providing reference-grade haplotype sequences from heterozygous samples.

ABSTRACT:

Background

High resolution HLA genotyping of donors and recipients is a crucially important prerequisite for haematopoetic stem-cell transplantation and relies heavily on the quality and completeness of immunogenetic reference sequence databases of allelic variation.

Results

Here, we report on DR2S, an R package that leverages the strengths of two sequencing technologies-the accuracy of next-generation sequencing with the read length of third-generation sequencing technologies like PacBio's SMRT sequencing or ONT's nanopore sequencing-to reconstruct fully-phased high-quality full-length haplotype sequences. Although optimised for HLA and KIR genes, DR2S is applicable to all loci with known reference sequences provided that full-length sequencing data is available for analysi

SUBMITTER: Klasberg S 

PROVIDER: S-EPMC8111713 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature