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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.
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...

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Related Experiment Video

Updated: Jun 19, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

High-resolution, high-throughput HLA genotyping by next-generation sequencing.

G Bentley1, R Higuchi, B Hoglund

  • 1Department of Human Genetics, Roche Molecular Systems Inc, Pleasanton, CA 94588, USA.

Tissue Antigens
|October 23, 2009
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing with long reads enables unambiguous human leukocyte antigen (HLA) typing for hematopoietic stem cell transplantation. This method accurately phases alleles and achieves high throughput for multiple loci and samples.

More Related Videos

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Experiment Videos

Last Updated: Jun 19, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Human leukocyte antigen (HLA) genes are highly polymorphic, crucial for hematopoietic stem cell transplantation.
  • Current HLA typing methods struggle to phase heterozygote alleles, hindering accurate donor selection.
  • Next-generation sequencing (NGS) offers potential for improved HLA typing resolution.

Purpose of the Study:

  • To demonstrate the utility of long-read NGS for unambiguous, allele-level HLA typing.
  • To assess the throughput of an NGS-based system for comprehensive HLA typing.
  • To evaluate the system's capability in detecting rare alleles and chimeric mixtures.

Main Methods:

  • Utilized 454 Life Sciences GS FLX system with read lengths >250 nucleotides for clonal sequencing.
  • Employed multiplex identification tags (MIDs) for high-throughput, pooled sample analysis.
  • Integrated Conexio Genomics HLA typing software for genotype assignment across 7-10 HLA loci.

Main Results:

  • Achieved unambiguous determination of HLA allele sequences by phasing linked polymorphisms.
  • Demonstrated high throughput, enabling complete 7-locus HLA typing for 24-48 individuals per run.
  • Successfully detected rare HLA alleles in chimeric mixtures and identified a rare maternal allele in a SCIDS patient.

Conclusions:

  • Long-read NGS provides a robust solution for accurate, allele-level HLA typing.
  • The developed system offers high throughput and sensitivity for clinical and research applications.
  • This technology advances donor selection for hematopoietic stem cell transplantation and aids in complex genetic analyses.