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

2021 ◽  
pp. 1-9
Author(s):  
Tae Yeul Kim ◽  
HongBi Yu ◽  
Minh-Trang Thi Phan ◽  
Ja-Hyun Jang ◽  
Duck Cho
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
High Frequency ◽  
Blood Group Antigen ◽  
Clinical Settings ◽  
Next Generation ◽  
Hybridization Capture ◽  
Low Levels ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

<b><i>Background:</i></b> 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. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T&#x3e;G) in a patient with an A<sub>el</sub> phenotype and detected a small fraction of <i>ABO</i>*<i>A1.02</i> (approximately 3–6%) coexisting with the major genotype <i>ABO</i>*<i>B.01</i>/<i>O.01.02</i> in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C&#x3e;T, p.Gln126*; <i>ABCG2</i>*<i>01N.01</i>) 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. <b><i>Conclusion:</i></b> NGS-based blood group genotyping can be used for identifying <i>ABO</i> 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.

scholarly journals Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

2016 ◽  
Vol 62 (11) ◽  
pp. 1458-1464 ◽  
Author(s):  
Kirsten J M van Nimwegen ◽  
Ronald A van Soest ◽  
Joris A Veltman ◽  
Marcel R Nelen ◽  
Gert Jan van der Wilt ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Sensitivity Analyses ◽  
Clinical Settings ◽  
Next Generation ◽  
Capital Costs ◽  
Whole Exome ◽  
Cost Calculations ◽  
Gene Panels ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract BACKGROUND The substantial technological advancements in next-generation sequencing (NGS), combined with dropping costs, have allowed for a swift diffusion of NGS applications in clinical settings. Although several commercial parties report to have broken the $1000 barrier for sequencing an entire human genome, a valid cost overview for NGS is currently lacking. This study provides a complete, transparent and up-to-date overview of the total costs of different NGS applications. METHODS Cost calculations for targeted gene panels (TGP), whole exome sequencing (WES) and whole genome sequencing (WGS) were based on the Illumina NextSeq500, HiSeq4000, and HiSeqX5 platforms, respectively. To anticipate future developments, sensitivity analyses are performed. RESULTS Per-sample costs were €1669 for WGS, € 792 for WES and €333 for TGP. To reach the coveted $1000 genome, not only is the long-term and efficient use of the sequencing equipment needed, but also large reductions in capital costs and especially consumable costs are also required. CONCLUSIONS WES and TGP are considerably lower-cost alternatives to WGS. However, this does not imply that these NGS approaches should be preferred in clinical practice, since this should be based on the tradeoff between costs and the expected clinical utility of the approach chosen. The results of the present study contribute to the evaluation of such tradeoffs.

Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

2019 ◽  
Author(s):  
Altuğ Koç ◽  
Elçin Bora ◽  
Tayfun Cinleti ◽  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Alport Syndrome ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

The applications of next-generation sequencing (NGS) in drug development for cancer therapy

2020 ◽  
Vol 16 ◽  
Author(s):  
Pelin Telkoparan-Akillilar ◽  
Dilek Cevik
Keyword(s):  
Next Generation Sequencing ◽  
Drug Discovery ◽  
Cancer Therapy ◽  
Target Identification ◽  
Rapid Development ◽  
Next Generation ◽  
Biomedical Sciences ◽  
Dna And Rna ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Background: Numerous sequencing techniques have been progressed since the 1960s with the rapid development of molecular biology studies focusing on DNA and RNA. Methods: a great number of articles, book chapters, websites are reviewed, and the studies covering NGS history, technology and applications to cancer therapy are included in the present article. Results: High throughput next-generation sequencing (NGS) technologies offer many advantages over classical Sanger sequencing with decreasing cost per base and increasing sequencing efficiency. NGS technologies are combined with bioinformatics software to sequence genomes to be used in diagnostics, transcriptomics, epidemiologic and clinical trials in biomedical sciences. The NGS technology has also been successfully used in drug discovery for the treatment of different cancer types. Conclusion: This review focuses on current and potential applications of NGS in various stages of drug discovery process, from target identification through to personalized medicine.

Sign in / Sign up

Export Citation Format

Share Document