RAbHIT: R Antibody Haplotype Inference Tool
Abstract Summary Antibody haplotype inference (chromosomal phasing) may have clinical implications for the identification of genetic predispositions to diseases. Yet, our knowledge of the genomic loci encoding for the variable regions of the antibody is only partial, mostly due to the challenge of a...
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Veröffentlicht in: | Bioinformatics 2019-11, Vol.35 (22), p.4840-4842 |
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Sprache: | eng |
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Summary
Antibody haplotype inference (chromosomal phasing) may have clinical implications for the identification of genetic predispositions to diseases. Yet, our knowledge of the genomic loci encoding for the variable regions of the antibody is only partial, mostly due to the challenge of aligning short reads from genome sequencing to these highly repetitive loci. A powerful approach to infer the content of these loci relies on analyzing repertoires of rearranged V(D)J sequences. We present here RAbHIT, an R Haplotype Antibody Inference Tool, that implements a novel algorithm to infer V(D)J haplotypes by adapting a Bayesian framework. RAbHIT offers inference of haplotype and gene deletions. It may be applied to sequences from naïve and non-naïve B-cells, sequenced by different library preparation protocols.
Availability and implementation
RAbHIT is freely available for academic use from comprehensive R archive network (CRAN) (https://cran.r-project.org/web/packages/rabhit/) under CC BY-SA 4.0 license.
Supplementary information
Supplementary data are available at Bioinformatics online. |
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ISSN: | 1367-4803 1460-2059 1367-4811 |
DOI: | 10.1093/bioinformatics/btz481 |