The experience of extended blood group genotyping by next-generation sequencing (NGS): investigation of patients with sickle-cell disease

Vox Sanguinis ◽  
2016 ◽  
Vol 111 (4) ◽  
pp. 418-424 ◽  
Author(s):  
Y. Fichou ◽  
M. Mariez ◽  
C. Le Maréchal ◽  
C. Férec
Keyword(s):  
Next Generation Sequencing ◽  
Sickle Cell Disease ◽  
Blood Group ◽  
Sickle Cell ◽  
Next Generation ◽  
Cell Disease ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

scholarly journals Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing

2021 ◽  
Vol 11 (6) ◽  
pp. 454
Author(s):  
Adekunle Adekile ◽  
Nagihan Akbulut-Jeradi ◽  
Rasha Al Khaldi ◽  
Maria Jinky Fernandez ◽  
Jalaja Sukumaran
Keyword(s):  
Next Generation Sequencing ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Next Generation ◽  
Cell Disease ◽  
Two Factors ◽  
The Many ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Hemoglobin genotype and HBB haplotype are established genetic factors that modify the clinical phenotype in sickle cell disease (SCD). Current methods of establishing these two factors are cumbersome and/or prone to errors. The throughput capability of next generation sequencing (NGS) makes it ideal for simultaneous interrogation of the many genes of interest in SCD. This study was designed to confirm the diagnosis in patients with HbSS and Sβ-thalassemia, identify any ß-thal mutations and simultaneously determine the ßS HBB haplotype. Illumina Ampliseq custom DNA panel was used to genotype the DNA samples. Haplotyping was based on the alleles on five haplotype-specific SNPs. The patients studied included 159 HbSS patients and 68 Sβ-thal patients, previously diagnosed using high performance liquid chromatography (HPLC). There was considerable discordance between HPLC and NGS results, giving a false +ve rate of 20.5% with a sensitivity of 79% for the identification of Sβthal. Arab/India haplotype was found in 81.5% of βS chromosomes, while the two most common, of the 13 β-thal mutations detected, were IVS-1 del25 and IVS-II-1 (G>A). NGS is very versatile and can be deployed to simultaneously screen multiple gene loci for modifying polymorphisms, to afford personalized, evidence-based counselling and early intervention.

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.

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.

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