Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
The ABO Blood Group01:12

The ABO Blood Group

The ABO blood group system is a critical element of transfusion medicine, essential for determining blood compatibility in transfusions and organ transplants. It is based on specific antigens, or agglutinogens, present on the surface of red blood cells (RBCs) and corresponding antibodies, or agglutinins, in the blood plasma.
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
Blood Types02:20

Blood Types

Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
Blood Typing01:10

Blood Typing

Understanding an individual's blood group is a critical component of transfusion medicine. It ensures compatibility in blood transfusions, organ transplants, and even during pregnancy. Determining these blood groups involves the ABO and Rh blood typing systems, utilizing specific antigens and corresponding anti-sera to identify an individual's blood type.
Antigens are protein molecules that reside on the surface of red blood cells (RBCs). The ABO and Rh blood typing systems target antigens A,...
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Red cell antigen exposures in patients with sickle cell disease receiving transfusion from Black and Hispanic donors.

Blood. Red cells & iron·2026
Same author

CCL19<sup>+</sup> fibroblasts define a proliferative niche in chronic lymphocytic leukemia.

bioRxiv : the preprint server for biology·2026
Same author

Identification of breakpoint regions and single nucleotide variations of RHD hybrid alleles by long-read sequencing.

Vox sanguinis·2026
Same author

Identification and structural analysis of a novel FUT1 c.789C>A variant and previously reported para-Bombay alleles using an α2FucT1 structural model.

Transfusion·2026
Same author

Plasmodium gets inside through the back door.

Blood·2026
Same author

Red blood cell transfusion survival in sickle cell disease is reduced by donor characteristics and recipient spleen activity.

Blood advances·2026
Same journal

The significance of galectin-9 and T-cell immunoglobulin and mucin domain-containing molecule-3 (TIM-3) in patients with chronic lymphocytic leukemia: The role of immune evasion.

Human immunology·2026
Same journal

The functional relevance of human leukocyte antigens in the development of cord blood derived advanced cellular therapies: A new direction of public cord blood banks.

Human immunology·2026
Same journal

From educational to graded: redefining proficiency testing in ABO genotyping.

Human immunology·2026
Same journal

Recurrent spontaneous abortion: integrated bioinformatics and histological validation identify FURIN and NEDD4 as ferroptosis-associated endometrial markers.

Human immunology·2026
Same journal

A perspective on ABO incompatible transplantation.

Human immunology·2026
Same journal

Classical HLA allele and haplotype frequency estimates in US populations.

Human immunology·2026
See all related articles

Related Experiment Video

Updated: May 13, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

The "next" standard for ABO genotyping.

Abigail Joseph1, Helen H Mah2, Sunitha Vege3

  • 1Harvard Medical School, Boston, MA, USA.

Human Immunology
|May 11, 2026
PubMed
Summary
This summary is machine-generated.

A new targeted Next Generation Sequencing (NGS) assay reliably performs ABO genotyping from blood or buccal swabs. This method aids in complex transfusion and transplant cases, offering a standardized approach for ABO allele haplotype determination.

Keywords:
ABOBlood groupGenomicsGenotypingNGSNext generation sequencingRed blood celllong-read NGSshort-read NGS

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
10:24

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

Published on: August 29, 2014

Related Experiment Videos

Last Updated: May 13, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
10:24

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

Published on: August 29, 2014

Area of Science:

  • Immunogenetics
  • Molecular Diagnostics

Background:

  • ABO blood group compatibility is crucial for red blood cell transfusions and transplantation.
  • Serological ABO typing is standard but limited for buccal swabs and complex cases.
  • ABO genotyping offers an alternative for challenging serological results.

Purpose of the Study:

  • To develop and validate a targeted Next Generation Sequencing (NGS) assay for ABO genotyping.
  • To create companion interpretive software for automated analysis.
  • To assess the assay's utility in routine transplant work-up and complex cases.

Main Methods:

  • Targeted short-read NGS was performed on 237 blood and 42 buccal swab samples.
  • 10 samples with rare or complex ABO types were included.
  • Long-read sequencing was used for phasing common heterozygous ABO alleles.
  • Data analysis was conducted using proprietary bloodTyper software.

Main Results:

  • The NGS assay showed 99.3% concordance with serology for solid organ and stem cell donor samples.
  • NGS improved characterization of the ABO gene in complex and rare cases.
  • Long-read sequencing successfully phased heterozygous ABO alleles.

Conclusions:

  • Targeted NGS provides reliable ABO allele haplotype genotyping.
  • Automated interpretive software enables expert-free analysis.
  • Targeted ABO NGS is proposed as a new standard for ABO genotyping.