DR2S
DR2S is an R package that enhances the field of hematopoietic stem cell transplantation by providing high-resolution HLA genotyping of donors and recipients. This process is pivotal for transplantation's success and depends on detailed immunogenetic reference sequence databases. This tool uniquely combines the accuracy of next-generation sequencing (NGS) and the extended read length offered by third-generation sequencing technologies, such as PacBio's SMRT sequencing and ONT's nanopore sequencing, to reconstruct fully-phased, high-quality, full-length haplotype sequences.
While DR2S is optimized for the HLA and KIR genes, its utility extends to any loci for which full-length sequencing data and known reference sequences are available, making it a versatile tool for genetic research beyond its primary application. It includes supplementary tools for the visualization and quality control of reconstructed haplotypes, ensuring that the sequences are of sufficient quality for submission to public allele databases.
Topic
Mapping;Genetic variation;Immunogenetics;Surgery;Workflows
Detail
Operation: Haplotype mapping;Phasing;Genotyping;Sequence trimming
Software interface: Library
Language: R
License: MIT + file LICENSE
Cost: Free
Version name: 1.1.21
Credit: No funders' names are listed in the provided text.
Input: -
Output: -
Contact: Steffen Klasberg klasberg@dkms-lab.de
Collection: -
Maturity: Stable
Publications
- DR2S: an integrated algorithm providing reference-grade haplotype sequences from heterozygous samples.
- Klasberg S, et al. DR2S: an integrated algorithm providing reference-grade haplotype sequences from heterozygous samples. DR2S: an integrated algorithm providing reference-grade haplotype sequences from heterozygous samples. 2021; 22:236. doi: 10.1186/s12859-021-04153-0
- https://doi.org/10.1186/S12859-021-04153-0
- PMID: 33971817
- PMC: PMC8111713
Download and documentation
Source: https://github.com/DKMS-LSL/dr2s/releases/tag/v1.1.21
Documentation: https://github.com/DKMS-LSL/dr2s/blob/master/README.md
Home page: https://github.com/DKMS-LSL/dr2s
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