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HLApers: HLA Typing and Quantification of Expression with Personalized Index

Authors :
Cibele Masotti
Anamaria A. Camargo
Diogo Meyer
Vitor R. C. Aguiar
Source :
Bioinformatics for Cancer Immunotherapy ISBN: 9781071603260
Publication Year :
2020
Publisher :
Springer US, 2020.

Abstract

The plethora of RNA-seq data which have been generated in the recent years constitutes an attractive resource to investigate HLA variation and its relationship with normal and disease phenotypes, such as cancer. However, next generation sequencing (NGS) brings new challenges to HLA analysis because of the mapping bias introduced by aligning short reads originated from polymorphic genes to a single reference genome. Here we describe HLApers, a pipeline which adapts widely used tools for analysis of standard RNA-seq data to infer HLA genotypes and estimate expression. By generating reliable expression estimates for each HLA allele that an individual carries, HLApers allows a better understanding of the relationship between HLA alleles and phenotypes manifested by an individual.

Details

ISBN :
978-1-07-160326-0
ISBNs :
9781071603260
Database :
OpenAIRE
Journal :
Bioinformatics for Cancer Immunotherapy ISBN: 9781071603260
Accession number :
edsair.doi...........ec3e1d3bf16ba5774dfdaceaa69163bc
Full Text :
https://doi.org/10.1007/978-1-0716-0327-7_7