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PMID: 21244689 Published · epublish English Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Next-generation sequencing for HLA typing of class I loci.

BMC genomics ·Vol. 12 ·2011-01-18 ·Pages 42

Erlich RL, Jia X, Anderson S, Banks E, Gao X, Carrington M, Gupta N, DePristo MA, Henn MR, Lennon NJ, de Bakker PI

Abstract

Comprehensive sequence characterization across the MHC is important for successful organ transplantation and genetic association studies. To this end, we have developed an automated sample preparation, molecular barcoding and multiplexing protocol for the amplification and sequence-determination of class I HLA loci. We have coupled this process to a novel HLA calling algorithm to determine the most likely pair of alleles at each locus. We have benchmarked our protocol with 270 HapMap individuals from four worldwide populations with 96.4% accuracy at 4-digit resolution. A variation of this initial protocol, more suitable for large sample sizes, in which molecular barcodes are added during PCR rather than library construction, was tested on 95 HapMap individuals with 98.6% accuracy at 4-digit resolution. Next-generation sequencing on the 454 FLX Titanium platform is a reliable, efficient, and scalable technology for HLA typing.

MeSH Terms
Genes, MHC Class I/genetics Histocompatibility Testing/methods Humans Polymerase Chain Reaction Sequence Analysis, DNA/methods
Authors & Affiliations
11 authors, click to expand affiliations / ORCID
Erlich Rachel L
Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Jia Xiaoming
Anderson Scott
Banks Eric
Gao Xiaojiang
Carrington Mary
Gupta Namrata
DePristo Mark A
Henn Matthew R
Lennon Niall J
de Bakker Paul I W
References (27)
27 references, click to expand
  1. New allele frequency database: http://www.allelefrequencies.net.
    Tissue Antigens. 2003 May;61(5):403-7 PMID: 12753660
  2. Primer3 on the WWW for general users and for biologist programmers.
    Methods Mol Biol. 2000;132:365-86 PMID: 10547847
  3. Complete sequence and gene map of a human major histocompatibility complex. The MHC sequencing consortium.
    Nature. 1999 Oct 28;401(6756):921-3 PMID: 10553908
  4. High-resolution, high-throughput HLA genotyping by next-generation sequencing.
    Tissue Antigens. 2009 Nov;74(5):393-403 PMID: 19845894
  5. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.
    Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18680-5 PMID: 19846760
  6. A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454.
    Genome Biol. 2010;11(2):R15 PMID: 20137071
  7. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.
    Nat Genet. 2006 Oct;38(10):1166-72 PMID: 16998491
  8. The Sequence Alignment/Map format and SAMtools.
    Bioinformatics. 2009 Aug 15;25(16):2078-9 PMID: 19505943
  9. The IMGT/HLA database.
    Nucleic Acids Res. 2009 Jan;37(Database issue):D1013-7 PMID: 18838392
  10. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
    Genome Res. 2010 Sep;20(9):1297-303 PMID: 20644199
  11. Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification.
    Hum Immunol. 2009 Nov;70(11):960-4 PMID: 19706315
  12. The influence of HLA genotype on AIDS.
    Annu Rev Med. 2003;54:535-51 PMID: 12525683
  13. Defining the role of the MHC in autoimmunity: a review and pooled analysis.
    PLoS Genet. 2008 Apr 25;4(4):e1000024 PMID: 18437207
  14. Nomenclature for factors of the HLA system, update March 2005.
    Hum Immunol. 2005 Sep;66(9):1017-8 PMID: 16360844
  15. Nomenclature for factors of the HLA system, update February 2010.
    Tissue Antigens. 2010 Aug;76(2):165-70 PMID: 20492594
  16. A novel single cDNA amplicon pyrosequencing method for high-throughput, cost-effective sequence-based HLA class I genotyping.
    Hum Immunol. 2010 Oct;71(10):1011-7 PMID: 20650293
  17. IMGT/HLA and IMGT/MHC: sequence databases for the study of the major histocompatibility complex.
    Nucleic Acids Res. 2003 Jan 1;31(1):311-4 PMID: 12520010
  18. The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors.
    Blood. 2002 Jun 1;99(11):4200-6 PMID: 12010826
  19. Genome sequencing in microfabricated high-density picolitre reactors.
    Nature. 2005 Sep 15;437(7057):376-80 PMID: 16056220
  20. Nomenclature for factors of the HLA system, update May 2006.
    Tissue Antigens. 2006 Sep;68(3):273-5 PMID: 16948656
  21. The human genome browser at UCSC.
    Genome Res. 2002 Jun;12(6):996-1006 PMID: 12045153
  22. Genetics of HLA disease association.
    Annu Rev Genet. 1981;15:169-87 PMID: 7039493
  23. Jalview Version 2--a multiple sequence alignment editor and analysis workbench.
    Bioinformatics. 2009 May 1;25(9):1189-91 PMID: 19151095
  24. Gene map of the extended human MHC.
    Nat Rev Genet. 2004 Dec;5(12):889-99 PMID: 15573121
  25. Nomenclature for factors of the HLA system, 2010.
    Tissue Antigens. 2010 Apr;75(4):291-455 PMID: 20356336
  26. Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.
    Immunogenetics. 2008 Jan;60(1):1-18 PMID: 18193213
  27. MUSCLE: multiple sequence alignment with high accuracy and high throughput.
    Nucleic Acids Res. 2004 Mar 19;32(5):1792-7 PMID: 15034147
Article Info
Journal
BMC genomics
Abbr.
BMC Genomics
ISSN
1471-2164
Published
2011-01-18
Epub
2011-00-18
Pages
42
Language
English
Region
England
NLM ID
100965258
PMCID
PMC3033818
Subset
IM
Grants
NIAID NIH HHS · P30 AI060354 · United States
Intramural NIH HHS · United States
PHS HHS · HHSN26120080001E · United States
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