Abstract
ATHLATES (accurate typing of human leukocyte antigen through exome sequencing) was originally developed to analyze whole-exome sequencing (exome-seq) data from the Illumina platform and to predict the HLA genotype at 2-field or higher resolution. HLA locus-specific reads are first collected by stringent read mapping to the IMGT/HLA database. ATHLATES then performs read assembly, candidate allele identification, and genotype inference. Here, we describe the protocol of using ATHLATES for the above purpose and expand the application to analyze targeted sequencing data using amplicons of full HLA genes.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Gabriel C, Danzer M, Hackl C, Kopal G, Hufnagl P, Hofer K, Polin H, Stabentheiner S, Proll J (2009) Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification. Hum Immunol 70(11):960–964. https://doi.org/10.1016/j.humimm.2009.08.009
Erlich HA (2015) HLA typing using next generation sequencing: An overview. Hum Immunol 76(12):887–890. https://doi.org/10.1016/j.humimm.2015.03.001
Liu C, Yang X, Duffy B, Mohanakumar T, Mitra RD, Zody MC, Pfeifer JD (2013) ATHLATES: accurate typing of human leukocyte antigen through exome sequencing. Nucleic Acids Res 41(14):e142. https://doi.org/10.1093/nar/gkt481
Barone JC, Saito K, Beutner K, Campo M, Dong W, Goswami CP, Johnson ES, Wang ZX, Hsu S (2015) HLA-genotyping of clinical specimens using Ion Torrent-based NGS. Hum Immunol 76(12):903–909. https://doi.org/10.1016/j.humimm.2015.09.014
Duke JL, Lind C, Mackiewicz K, Ferriola D, Papazoglou A, Gasiewski A, Heron S, Huynh A, McLaughlin L, Rogers M, Slavich L, Walker R, Monos DS (2016) Determining performance characteristics of an NGS-based HLA typing method for clinical applications. HLA 87(3):141–152. https://doi.org/10.1111/tan.12736
Mayor NP, Robinson J, McWhinnie AJ, Ranade S, Eng K, Midwinter W, Bultitude WP, Chin CS, Bowman B, Marks P, Braund H, Madrigal JA, Latham K, Marsh SG (2015) HLA Typing for the Next Generation. PLoS One 10(5):e0127153. https://doi.org/10.1371/journal.pone.0127153
Ammar R, Paton TA, Torti D, Shlien A, Bader GD (2015) Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes. F1000Research 4:17. https://doi.org/10.12688/f1000research.6037.1
Lange V, Bohme I, Hofmann J, Lang K, Sauter J, Schone B, Paul P, Albrecht V, Andreas JM, Baier DM, Nething J, Ehninger U, Schwarzelt C, Pingel J, Ehninger G, Schmidt AH (2014) Cost-efficient high-throughput HLA typing by MiSeq amplicon sequencing. BMC Genomics 15:63. https://doi.org/10.1186/1471-2164-15-63
Schofl G, Lang K, Quenzel P, Bohme I, Sauter J, Hofmann JA, Pingel J, Schmidt AH, Lange V (2017) 2.7 million samples genotyped for HLA by next generation sequencing: lessons learned. BMC Genomics 18(1):161. https://doi.org/10.1186/s12864-017-3575-z
Szolek A, Schubert B, Mohr C, Sturm M, Feldhahn M, Kohlbacher O (2014) OptiType: precision HLA typing from next-generation sequencing data. Bioinformatics (Oxford) 30(23):3310–3316. https://doi.org/10.1093/bioinformatics/btu548
Xie C, Yeo ZX, Wong M, Piper J, Long T, Kirkness EF, Biggs WH, Bloom K, Spellman S, Vierra-Green C, Brady C, Scheuermann RH, Telenti A, Howard S, Brewerton S, Turpaz Y, Venter JC (2017) Fast and accurate HLA typing from short-read next-generation sequence data with xHLA. Proc Natl Acad Sci U S A. https://doi.org/10.1073/pnas.1707945114
Boegel S, Lower M, Schafer M, Bukur T, de Graaf J, Boisguerin V, Tureci O, Diken M, Castle JC, Sahin U (2012) HLA typing from RNA-Seq sequence reads. Genome Med 4(12):102. https://doi.org/10.1186/gm403
Rizvi NA, Hellmann MD, Snyder A, Kvistborg P, Makarov V, Havel JJ, Lee W, Yuan J, Wong P, Ho TS, Miller ML, Rekhtman N, Moreira AL, Ibrahim F, Bruggeman C, Gasmi B, Zappasodi R, Maeda Y, Sander C, Garon EB, Merghoub T, Wolchok JD, Schumacher TN, Chan TA (2015) Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 348(6230):124–128. https://doi.org/10.1126/science.aaa1348
Hugo W, Zaretsky JM, Sun L, Song C, Moreno BH, Hu-Lieskovan S, Berent-Maoz B, Pang J, Chmielowski B, Cherry G, Seja E, Lomeli S, Kong X, Kelley MC, Sosman JA, Johnson DB, Ribas A, Lo RS (2016) Genomic and transcriptomic features of response to anti-PD-1 therapy in metastatic melanoma. Cell 165(1):35–44. https://doi.org/10.1016/j.cell.2016.02.065
Snyder A, Makarov V, Merghoub T, Yuan J, Zaretsky JM, Desrichard A, Walsh LA, Postow MA, Wong P, Ho TS, Hollmann TJ, Bruggeman C, Kannan K, Li Y, Elipenahli C, Liu C, Harbison CT, Wang L, Ribas A, Wolchok JD, Chan TA (2014) Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med 371(23):2189–2199. https://doi.org/10.1056/NEJMoa1406498
Boegel S, Scholtalbers J, Lower M, Sahin U, Castle JC (2015) In silico HLA typing using standard RNA-Seq sequence reads. Methods Mol Biol 1310:247–258. https://doi.org/10.1007/978-1-4939-2690-9_20
Ka S, Lee S, Hong J, Cho Y, Sung J, Kim HN, Kim HL, Jung J (2017) HLAscan: genotyping of the HLA region using next-generation sequencing data. BMC Bioinformatics 18(1):258. https://doi.org/10.1186/s12859-017-1671-3
Huang Y, Yang J, Ying D, Zhang Y, Shotelersuk V, Hirankarn N, Sham PC, Lau YL, Yang W (2015) HLAreporter: a tool for HLA typing from next generation sequencing data. Genome Med 7(1):25. https://doi.org/10.1186/s13073-015-0145-3
Bai Y, Ni M, Cooper B, Wei Y, Fury W (2014) Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. BMC Genomics 15:325. https://doi.org/10.1186/1471-2164-15-325
Barnett DW, Garrison EK, Quinlan AR, Stromberg MP, Marth GT (2011) BamTools: a C++ API and toolkit for analyzing and managing BAM files. Bioinformatics (Oxford) 27(12):1691–1692. https://doi.org/10.1093/bioinformatics/btr174
Hatem A, Bozdag D, Toland AE, Catalyurek UV (2013) Benchmarking short sequence mapping tools. BMC Bioinformatics 14:184. https://doi.org/10.1186/1471-2105-14-184
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25(16):2078–2079. https://doi.org/10.1093/bioinformatics/btp352
Osoegawa K, Mack SJ, Udell J, Noonan DA, Ozanne S, Trachtenberg E, Prestegaard M (2016) HLA haplotype validator for quality assessments of HLA typing. Hum Immunol 77(3):273–282. https://doi.org/10.1016/j.humimm.2015.10.018
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media, LLC, part of Springer Nature
About this protocol
Cite this protocol
Liu, C., Yang, X. (2018). Using Exome and Amplicon-Based Sequencing Data for High-Resolution HLA Typing with ATHLATES. In: Boegel, S. (eds) HLA Typing. Methods in Molecular Biology, vol 1802. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-8546-3_14
Download citation
DOI: https://doi.org/10.1007/978-1-4939-8546-3_14
Published:
Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-8545-6
Online ISBN: 978-1-4939-8546-3
eBook Packages: Springer Protocols