The Immuno Polymorphism Database (IPD) databases provide global, curated repositories for information regarding polymorphisms of genes of the immune system, thereby generating immense value for the research and clinical communities. The advent of high-throughput genotyping in immunogenetics has led to dramatically growing numbers of heretofore unknown HLA and lately also killer-cell immunoglobulin-like receptor (KIR) alleles, which are to be curated and deposited in the IPD-IMGT/HLA and IPD-KIR databases, respectively. It is highly desirable that these novel alleles are characterised and submitted in full length, and that known alleles are extended to cover the complete gene sequence. However, the manual annotation and submission of sequences to European Molecular Biology Laboratory's European Nucleotide Archive and the IPD-IMGT/HLA and IPD-KIR databases is time-consuming and error-prone. Here, we report the substantial extension of the HLA allele submission tool TypeLoader, which now also supports the annotation and submission of KIR alleles. To enable a more widespread use of this tool, we have made it available as a stand-alone application that can easily be installed on standard Windows or Linux computers. Furthermore, an internal SQLite database was added to store a wide range of metadata about each allele. This allows TypeLoader2 to be used as a lab's central information platform for the annotation, curation and submission of full-length HLA and KIR allele sequences. The software is freely available from GitHub (https://github.com/DKMS-LSL/typeloader). We hope that the increased convenience and scope of TypeLoader2 will foster the submission of more full-length sequences to the IPD-IMGT/HLA and IPD-KIR databases, ultimately promoting the use of full-length sequencing for genotyping both HLA and KIR.
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http://dx.doi.org/10.1111/tan.13508 | DOI Listing |
BMC Bioinformatics
May 2021
DKMS Life Science Lab, Dresden, Germany.
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 analysis.
HLA
April 2019
DKMS Life Science Lab, Dresden, Germany.
The Immuno Polymorphism Database (IPD) databases provide global, curated repositories for information regarding polymorphisms of genes of the immune system, thereby generating immense value for the research and clinical communities. The advent of high-throughput genotyping in immunogenetics has led to dramatically growing numbers of heretofore unknown HLA and lately also killer-cell immunoglobulin-like receptor (KIR) alleles, which are to be curated and deposited in the IPD-IMGT/HLA and IPD-KIR databases, respectively. It is highly desirable that these novel alleles are characterised and submitted in full length, and that known alleles are extended to cover the complete gene sequence.
View Article and Find Full Text PDFMethods Mol Biol
March 2015
Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, Hampstead, London, NW3 2QG, UK.
The IMGT/HLA Database (http://www.ebi.ac.
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