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2017 ; 18
(1
): 334
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HLA-check: evaluating HLA data from SNP information
#MMPMID28697761
Jeanmougin M
; Noirel J
; Coulonges C
; Zagury JF
BMC Bioinformatics
2017[Jul]; 18
(1
): 334
PMID28697761
show ga
BACKGROUND: The major histocompatibility complex (MHC) region of the human
genome, and specifically the human leukocyte antigen (HLA) genes, play a major
role in numerous human diseases. With the recent progress of sequencing methods
(eg, Next-Generation Sequencing, NGS), the accurate genotyping of this region has
become possible but remains relatively costly. In order to obtain the HLA
information for the millions of samples already genotyped by chips in the past
ten years, efficient bioinformatics tools, such as SNP2HLA or HIBAG, have been
developed that infer HLA information from the linkage disequilibrium existing
between HLA alleles and SNP markers in the MHC region. RESULTS: In this study, we
first used ShapeIT and Impute2 to implement an imputation method akin to SNP2HLA
and found a comparable quality of imputation on a European dataset. More
importantly, we developed a new tool, HLA-check, that allows for the detection of
aberrant HLA allele calling with regard to the SNP genotypes in the region.
Adding this tool to the HLA imputation software increases dramatically their
accuracy, especially for HLA class I genes. CONCLUSION: Overall, HLA-check was
able to identify a limited number of implausible HLA typings (less than 10%) in a
population, and these samples can then either be removed or be retyped by NGS for
HLA association analysis.
|*Polymorphism, Single Nucleotide
[MESH]
|*Software
[MESH]
|Alleles
[MESH]
|Genotyping Techniques/*methods
[MESH]
|HLA Antigens/*genetics
[MESH]
|Histocompatibility Antigens Class I/genetics
[MESH]