Abstract:
:While modern high-throughput sequence-based HLA genotyping methods generally provide highly accurate typing results, artefacts may nonetheless arise for numerous reasons, such as sample contamination, sequencing errors, read misalignments, or PCR amplification biases. To help detecting spurious typing results, we tested the performance of two probabilistic classifiers (binary logistic regression and random forest models) based on population-specific genotype frequencies. We trained the model using high-resolution typing results for HLA-DRB1, DQB1, and DPB1 from large samples of German, Polish and UK-based donors. The high predictive capacity of the best models replicated both in 10-fold cross-validation for each gene and in using independent evaluation data (AUC 0.820-0.893). While genotype frequencies alone provide enough predictive power to render the model generally useful for highlighting potentially spurious typing results, the inclusion of workflow-specific predictors substantially increases prediction specificity. Low initial DNA concentrations in combination with low-volume PCR reactions form a major source of stochastic error specific to the Fluidigm chip-based workflow at DKMS Life Science Lab. The addition of DNA concentrations as a predictor variable thus substantially increased AUC (0.947-0.959) over purely frequency-based models.
journal_name
Hum Immunoljournal_title
Human immunologyauthors
Schöfl G,Schmidt AH,Lange Vdoi
10.1016/j.humimm.2016.01.012subject
Has Abstractpub_date
2016-03-01 00:00:00pages
264-272issue
3eissn
0198-8859issn
1879-1166pii
S0198-8859(16)00013-6journal_volume
77pub_type
杂志文章相关文献
HUMAN IMMUNOLOGY文献大全abstract::The polymorphic nature of the KIR3DL1/S1 gene complex has been investigated through the development of a polymerase chain reaction-sequence-specific oligonucleotide probes (PCR-SSOP) allele typing system. The KIR3DL1/S1 system was applied to a healthy group of Northern Irish individuals to establish allele frequencies...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2004.03.003
更新日期:2004-06-01 00:00:00
abstract::HLA exhibits the most extensive polymorphism of any of the known human genes and is known as a genetic marker which allows genetic background of many diseases and physical phenomena. In this study, we, therefore, tried to investigate the regulation of HLA polymorphism and peak bone mass (PBM) in order to elucidate the...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/s0198-8859(98)00009-3
更新日期:1998-04-01 00:00:00
abstract::Peptides derived from mutated human proto-oncogenes bound to HLA may represent a novel type of tumor-specific antigen. Mutated ras genes are the oncogenes most frequently identified in human cancer. The transforming genes carry a mutation in codons 12, 13, or 61. We have investigated whether the T-cell repertoire of h...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(92)90334-j
更新日期:1992-04-01 00:00:00
abstract::A proinflammatory cytokine interleukin-6 (IL-6) plays an important role in the development, pathogenesis and outcome of SIRS, sepsis and septic shock. We have evaluated the role of the IL-6 gene polymorphisms in pediatric patients. A total of 421 consecutive pediatric patients admitted to the pediatric intensive care ...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2007.06.003
更新日期:2007-09-01 00:00:00
abstract::Graves disease (GD) is an autoimmune thyroid disease and is associated with human leukocyte antigen (HLA)-DR3 and DQA1*0501 in Caucasians. However, the association of HLA with GD is less clear-cut in East Asian populations. We analyzed HLA-DRB1 and -DQB1 associations with GD in 198 Korean patients compared with 200 he...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2005.03.001
更新日期:2005-06-01 00:00:00
abstract::To clarify the molecular relationship between HLA loci and ulcerative colitis (UC) in Japanese patients, we performed HLA-DP genotyping by the PCR-RFLP method and studied tumor necrosis factor beta-chain genetic polymorphism by Southern hybridization, in addition to conventional serologic typing. Significant increase ...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(93)90113-f
更新日期:1993-02-01 00:00:00
abstract::Human leukocyte antigen-G (HLA-G) is an anti-inflammatory and immunosuppressive molecule that can modulate immune cell activation. The role of HLA-G in tuberculosis, an immune-mediated and chronic bacterial disease remains to be elucidated. We investigated the expression profile of soluble and membrane bound HLA-G in ...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2016.01.004
更新日期:2016-09-01 00:00:00
abstract::The association of Ig allotypes with celiac disease was analyzed in a sample of 95 Italian patients typed for HLA polymorphisms. No significant association was found for any Gm, A2m, or Km specificity when the overall sample was considered. However, significant different sex ratios were shown by patients' fnb positive...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(83)90065-4
更新日期:1983-02-01 00:00:00
abstract::From 535 endomyocardial biopsies (87 heart transplant recipients) 283 cell cultures could be generated. All cultures tested contained T lymphocytes and in most cases CD4 was the predominant phenotype at any time posttransplant. A significantly higher proportion of CD8-dominated cultures was found among cultures from b...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(91)90071-g
更新日期:1991-01-01 00:00:00
abstract::Ninety healthy and unrelated volunteers were randomly selected to study the gene frequencies of Killer-cell immunoglobulin-like receptors (KIRs) in a Chilean (Talca) population. KIR typing was resolved by PCR-single specific primer (SSP), and their gene frequencies were calculated by direct counting of the number of p...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2018.06.007
更新日期:2018-09-01 00:00:00
abstract::To evaluate the role of tumor necrosis factor-alpha (TNF-alpha) gene as susceptibility marker for spondyloarthritis (SpA), two polymorphisms (-238 and -308 positions) were analyzed in 229 patients with SpA (113 with ankylosing spondylitis [AS], 92 with undifferentiated SpA [U-SpA], 24 with reactive arthritis), and 169...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2006.07.009
更新日期:2006-10-01 00:00:00
abstract::The aim of this study was to assess the possible association of the functional (GT)(n) microsatellite polymorphism in the FOXP3 gene with predisposition to several autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), ulcerative colitis (UC), Crohn's disease, and celiac disease. We...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2005.06.001
更新日期:2005-08-01 00:00:00
abstract::Positive selection of immature thymocytes is a developmental process in which TCR ligation with low avidity induces generation of mature T cells. In mouse thymocytes, CD4(+)8(+) double-positive (DP) cells which were treated with a proper combination of calcium ionophore ionomycin and phorbol 12-myristate 13-acetate (P...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/s0198-8859(01)00276-2
更新日期:2001-08-01 00:00:00
abstract::Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome associated with defective DNA repair. Approximately 90% of NBS patients are homozygous for a truncating mutation of the NBS1 gene. As development of the immune system relies on recombination, which involves repair of DNA breaks, one might pred...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/s0198-8859(01)00345-7
更新日期:2001-12-01 00:00:00
abstract::Tumor-infiltrating lymphocytes (TIL) freshly isolated from human ovarian carcinomas were phenotyped (up to 75% CD3+ HLA-DR+ cells) and cultured in the presence of recombinant interleukin 2 and tumor necrosis factor alpha. In short-term cultures, an initial outgrowth of CD3+ CD8+ T lymphocytes resulted in the enrichmen...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(90)90022-h
更新日期:1990-06-01 00:00:00
abstract::The role of HLA-G in several clinical conditions related to reproduction has been investigated. Important polymorphisms have been found within the 5'URR and 3'UTR regions of the HLA-G promoter. The aim of the present study was to investigate 16 SNPs in the 5'URR and 14-bp insertion/deletion (ins/del) polymorphism loca...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2012.06.002
更新日期:2012-09-01 00:00:00
abstract:UNLABELLED:Early allograft dysfunction (EAD) after liver transplantation is mostly a reversible event caused by factors related to ischemia/reperfusion (I/R) injury. EAD represents a hepatic injury associated with pre- and early post-transplant inflammatory cytokine responses. Aim of the present study was to evaluate t...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2016.07.234
更新日期:2016-10-01 00:00:00
abstract::HLA-DQ molecules were isolated from DRw9-homozygous and DR4-homozygous cell lines by using a monoclonal antibody HU-18, which recognizes class II molecules carrying the conventional DQw3 determinant. The partial N-terminal sequence analysis of the DQw3 molecules revealed that they have sequences homologous to those of...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(85)90061-8
更新日期:1985-09-01 00:00:00
abstract::Accurate identification of HLA antibodies using the single antigen bead (SAB) assay is critical for assessment of pre/post-transplant immunological risk and successful virtual crossmatching. Unfortunately, high titer HLA antibodies can be missed or underestimated in the SAB assay as a result of interference with the d...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2019.04.019
更新日期:2019-07-01 00:00:00
abstract::The purpose of this study was to examine the expression of human leukocyte antigen-G (HLA-G) in patients with systemic lupus erythematosus (SLE) and its relation with interleukin-10 (IL-10) production. The study included 50 female SLE patients and 59 healthy female donors. HLA-G expression in peripheral blood and cuta...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2007.11.001
更新日期:2008-01-01 00:00:00
abstract::We describe the production of mouse monoclonal antibodies specific for the human TcR using as the immunogen transfected murine T-cell hybridoma cells coexpressing mouse CD3 with human Jurkat TcR alpha and beta chains. The shortage of monoclonal antibodies (mAbs) specific for the human TcR-V alpha and V beta families r...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(92)90098-8
更新日期:1992-11-01 00:00:00
abstract::Uninfected, as well as feline leukemia virus (FeLV) infected human cells cultured under high cell density conditions undergo changes in the expression of major histocompatibility complex (MHC) antigens, as determined by indirect trace binding radio immunoassay (RIA) using monoclonal anti-HLA antibodies and by decrease...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/s0198-8859(83)80006-8
更新日期:1983-06-01 00:00:00
abstract::The alloimmunization against the platelet PL-A1 antigen is strongly associated with a HLA class II structure in mothers of thrombocytopenic neonates. Most of the immunized women have first been shown to possess the DR3 specificity and subsequently the DRw52 allele. The 18 immunized mothers studied here by restriction ...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/0198-8859(90)90104-w
更新日期:1990-02-01 00:00:00
abstract::Monocytes produce high levels of inflammatory cytokines including IL-6 and TNF-α that are involved in autoimmunity, inflammatory diseases, cardiovascular disease and obesity. Therapies targeting IL-6 and TNF-α have been utilized in treating chronic inflammatory diseases. Oligonol is a lychee fruit-derived low-molecula...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2016.04.011
更新日期:2016-06-01 00:00:00
abstract::The aim of this study was to examine the role of single nucleotide polymorphisms (SNPs) and haplotypes of the tumor necrosis factor ligand superfamily member 15 (TNFSF15) gene in Hungarians with psoriasis and psoriatic arthritis. A case-control study was performed, and five TNFSF15 SNPs (rs3810936, rs6478108, rs647810...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2013.11.006
更新日期:2014-02-01 00:00:00
abstract::We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 144 Mexicans from the state of Guerrero to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes in the state of Guerrero include eight Native American and two E...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2019.05.015
更新日期:2020-09-01 00:00:00
abstract::The aim of this work was to investigate the longitudinal evolution of plasmatic soluble HLA-G (sHLA-G: shed HLA-G1 plus HLA-G5) during pregnancy, and if peripheral maternal antigen presenting cells (APC) can be a source of sHLA-G. Blood samples were obtained from 45 volunteers during normal pregnancy, 8 of them monthl...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2007.04.007
更新日期:2007-08-01 00:00:00
abstract::Class I molecules of the major histocompatibility complex bind peptides derived from cytosolic proteins and display them on the cell surface. This function alerts cytotoxic T cells to the presence of intracellular pathogens. Class I molecule assembly requires the association of the heavy chain with beta 2-microglobuli...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/S0198-8859(97)00001-3
更新日期:1997-04-01 00:00:00
abstract::Idiopathic achalasia is an esophageal motor disorder of unknown etiology. A wealth of evidence supports the concept that achalasia is an immune-mediated disease. According to this evidence, achalasia has been significantly associated with specific alleles of the human leukocyte antigen class II, PTPN22 and IL23R. Seve...
journal_title:Human immunology
pub_type: 杂志文章
doi:10.1016/j.humimm.2011.05.017
更新日期:2011-09-01 00:00:00
abstract::By discriminating self from nonself and controlling the magnitude and class of immune responses, the immune system mounts effective immunity against virtually any foreign antigens but avoids harmful immune responses to self. These are two equally important and related but distinct processes, which function in concert ...
journal_title:Human immunology
pub_type: 杂志文章,评审
doi:10.1016/j.humimm.2008.08.279
更新日期:2008-11-01 00:00:00