HLA typing from 1000 genomes whole genome and whole exome illumina data.
Specific HLA genotypes are known to be linked to either resistance or susceptibility to certain diseases or sensitivity to certain drugs. In addition, high accuracy HLA typing is crucial for organ and bone marrow transplantation. The most widespread high resolution HLA typing method used to date is...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3819389?pdf=render |
| _version_ | 1819132727111188480 |
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| author | Endre Major Krisztina Rigó Tim Hague Attila Bérces Szilveszter Juhos |
| author_facet | Endre Major Krisztina Rigó Tim Hague Attila Bérces Szilveszter Juhos |
| author_sort | Endre Major |
| collection | DOAJ |
| description | Specific HLA genotypes are known to be linked to either resistance or susceptibility to certain diseases or sensitivity to certain drugs. In addition, high accuracy HLA typing is crucial for organ and bone marrow transplantation. The most widespread high resolution HLA typing method used to date is Sanger sequencing based typing (SBT), and next generation sequencing (NGS) based HLA typing is just starting to be adopted as a higher throughput, lower cost alternative. By HLA typing the HapMap subset of the public 1000 Genomes paired Illumina data, we demonstrate that HLA-A, B and C typing is possible from exome sequencing samples with higher than 90% accuracy. The older 1000 Genomes whole genome sequencing read sets are less reliable and generally unsuitable for the purpose of HLA typing. We also propose using coverage % (the extent of exons covered) as a quality check (QC) measure to increase reliability. |
| first_indexed | 2024-12-22T09:35:59Z |
| format | Article |
| id | doaj.art-bd538ac880bc444da2e3714f91fc7793 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-22T09:35:59Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-bd538ac880bc444da2e3714f91fc77932022-12-21T18:30:50ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-01811e7841010.1371/journal.pone.0078410HLA typing from 1000 genomes whole genome and whole exome illumina data.Endre MajorKrisztina RigóTim HagueAttila BércesSzilveszter JuhosSpecific HLA genotypes are known to be linked to either resistance or susceptibility to certain diseases or sensitivity to certain drugs. In addition, high accuracy HLA typing is crucial for organ and bone marrow transplantation. The most widespread high resolution HLA typing method used to date is Sanger sequencing based typing (SBT), and next generation sequencing (NGS) based HLA typing is just starting to be adopted as a higher throughput, lower cost alternative. By HLA typing the HapMap subset of the public 1000 Genomes paired Illumina data, we demonstrate that HLA-A, B and C typing is possible from exome sequencing samples with higher than 90% accuracy. The older 1000 Genomes whole genome sequencing read sets are less reliable and generally unsuitable for the purpose of HLA typing. We also propose using coverage % (the extent of exons covered) as a quality check (QC) measure to increase reliability.http://europepmc.org/articles/PMC3819389?pdf=render |
| spellingShingle | Endre Major Krisztina Rigó Tim Hague Attila Bérces Szilveszter Juhos HLA typing from 1000 genomes whole genome and whole exome illumina data. PLoS ONE |
| title | HLA typing from 1000 genomes whole genome and whole exome illumina data. |
| title_full | HLA typing from 1000 genomes whole genome and whole exome illumina data. |
| title_fullStr | HLA typing from 1000 genomes whole genome and whole exome illumina data. |
| title_full_unstemmed | HLA typing from 1000 genomes whole genome and whole exome illumina data. |
| title_short | HLA typing from 1000 genomes whole genome and whole exome illumina data. |
| title_sort | hla typing from 1000 genomes whole genome and whole exome illumina data |
| url | http://europepmc.org/articles/PMC3819389?pdf=render |
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