ID CORE XT as a tool for molecular red blood cell typing

Bub, Carolina Bonet; Castilho, Lilian

doi:10.1080/14737159.2019.1656529

Cited by 7 publications

(4 citation statements)

References 34 publications

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“…The method was successfully established after optimizing relevant parameters. This technique goes beyond the detection of only known SNPs in the coding region, covering the exon and flanking intron sequences, avoiding the limitations of previously reported techniques, and maintaining the high throughput scale of blood group genotyping [ 11 , 13 , 14 ]. At the beginning of our experiment, only 36 blood group systems were named by ISBT.…”

Section: Discussionmentioning

confidence: 99%

“…However, previous studies have clarified the genetic and molecular mechanisms of 45 blood group systems and their 362 red cell antigens. Therefore, molecular diagnostics techniques have been employed for the identification of red cell antigens, including polymerase chain reaction specific sequence primer (PCR-SSP), PCR-sequence-based typing (PCR-SBT), BeadChips, Matrix-Assisted Laser Desorption/Ionization-Time-of-Flight Mass Spectrometry (MALDI-TOF MS), and next-generation sequencing (NGS) [ [11] , [12] , [13] , [14] , [15] ]. Kappler-Gratias S et al [ 16 ] selected reagent RBCs using a high-throughput DNA analysis with BeadChips, which improved the quality of reagent RBCs.…”

Section: Introductionmentioning

confidence: 99%

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Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology

Zhang,

Yuan,

Hong

et al. 2024

Heliyon

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology

Zhang,

Yuan,

Hong

et al. 2024

Heliyon

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“…The MPS panel was evaluated using three sets of genomic DNA (gDNA) samples that had been previously genotyped: (1) 13 blood donor samples genotyped by three SNP detection technologies (BLOODchip [Grifols, Barcelona, Spain], BeadChip [Immucor, New Jersey, USA] and HemoID [Sequenom, San Diego, USA]); (2) one male volunteer donor sample genotyped by BLOODchip; and (3) one male volunteer donor sample genotyped by commercially available, targeted MPS TruSight One Panel. [32][33][34][35]…”

Section: Evaluating the Probe Panel On Genomic Dna For Detection Of T...mentioning

confidence: 99%

Feasibility for non‐invasive prenatal fetal blood group and platelet genotyping by massively parallel sequencing: A single test system for multiple atypical red cell, platelet and quality control markers

McGowan,

O'Brien,

Sarri

et al. 2023

Br J Haematol

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SummaryNon‐invasive prenatal tests (NIPT) to predict fetal red cell or platelet antigen status for alloimmunised women are provided for select antigens. This study reports on massively parallel sequencing (MPS) using a red cell and platelet probe panel targeting multiple nucleotide variants, plus individual identification single nucleotide polymorphisms (IISNPs). Maternal blood samples were provided from 33 alloimmunised cases, including seven with two red cell antibodies. Cell‐free and genomic DNA was sequenced using targeted MPS and bioinformatically analysed using low‐frequency variant detection. The resulting maternal genomic DNA allele frequency was subtracted from the cell‐free DNA counterpart. Outcomes were matched against validated phenotyping/genotyping methods, where available. A 2.5% subtractive allele frequency threshold was set after comparing MPS predictions for K, RhC/c, RhE/e and Fya/Fyb against expected outcomes. This threshold was used for subsequent predictions, including HPA‐15a, Jka/Jkb, Kpa/Kpb and Lua. MPS outcomes were 97.2% concordant with validated methods; one RhC case was discordantly negative and lacked IISNPs. IISNPs were informative for 30/33 cases as controls. NIPT MPS is feasible for fetal blood group genotyping and covers multiple blood groups and control targets in a single test. Noting caution for the Rh system, this has the potential to provide a personalised service for alloimmunised women.

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“…Furthermore, NGS-based blood group genotyping can be used to predict rare blood group phenotypes in patients with antibodies to HFAs. SNV-based assays typically target only a handful of null alleles [7-11] whereas NGS-based assays have the potential to identify all null alleles, allowing accurate prediction of rare blood group phenotypes [12]. Lastly, NGS-based blood group genotyping can be utilized to resolve anti-CD47 interference in pretransfusion compatibility testing.…”

Section: Introductionmentioning

confidence: 99%

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

Kim

Phan

et al. 2021

Transfus Med Hemother

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Background: Next-generation sequencing (NGS) technology has been recently introduced into blood group genotyping; however, there are few studies using NGS-based blood group genotyping in real-world clinical settings. In this study, we applied NGS-based blood group genotyping into various immunohaematology cases encountered in routine clinical practice. Methods: This study included 4 immunohaematology cases: ABO subgroup, ABO chimerism, antibody to a high-frequency antigen (HFA), and anti-CD47 interference. We designed a hybridization capture-based NGS panel targeting 39 blood group-related genes and applied it to the 4 cases. Results: NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T>G) in a patient with an Ael phenotype and detected a small fraction of ABO*A1.02 (approximately 3–6%) coexisting with the major genotype ABO*B.01/O.01.02 in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C>T, p.Gln126*; ABCG2*01N.01) in a patient with an antibody to an HFA; consequently, this patient’s phenotype was predicted as Jr(a−). Lastly, blood group phenotypes predicted by NGS were concordant with those determined by serology in 2 patients treated with anti-CD47 drugs. Conclusion: NGS-based blood group genotyping can be used for identifying ABO subgroup alleles, low levels of blood group chimerism, and antibodies to HFAs. Furthermore, it can be applied to extended blood group antigen matching for patients treated with anti-CD47 drugs.

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ID CORE XT as a tool for molecular red blood cell typing

Cited by 7 publications

References 34 publications

Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology

Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology

Feasibility for non‐invasive prenatal fetal blood group and platelet genotyping by massively parallel sequencing: A single test system for multiple atypical red cell, platelet and quality control markers

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

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