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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.

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Related Experiment Video

Updated: May 22, 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-throughput, high-fidelity HLA genotyping with deep sequencing.

Chunlin Wang1, Sujatha Krishnakumar, Julie Wilhelmy

  • 1Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94003, USA.

Proceedings of the National Academy of Sciences of the United States of America
|May 17, 2012
PubMed
Summary

This study introduces a cost-effective, high-resolution sequencing method for typing human leukocyte antigen (HLA) genes. This new approach enables accurate and scalable HLA genotyping for large-scale disease association studies.

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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
  • Bioinformatics

Background:

  • Human leukocyte antigen (HLA) genes are highly polymorphic and crucial for immune response.
  • HLA genes are linked to various diseases, including autoimmunity and infectious diseases.
  • Current HLA typing methods are expensive and technically challenging, limiting comprehensive characterization.

Purpose of the Study:

  • To develop a high-resolution, cost-effective methodology for comprehensive HLA gene typing.
  • To enable accurate discrimination between highly related HLA genes and their alleles.
  • To facilitate large-scale genetic studies by providing scalable HLA genotyping.

Main Methods:

  • Combined long-range amplification with high-throughput sequencing.
  • Utilized a unique genotyping algorithm for data analysis.
  • Calibrated the method for HLA-A, -B, -C, and -DRB1 genes using reference and clinical samples.

Main Results:

  • Successfully identified previously undescribed HLA alleles, including those with mismatches, insertions, and deletions.
  • Demonstrated clinical utility by typing five samples with a 5-day turnaround on an Illumina MiSeq instrument.
  • Achieved low-cost, high-throughput, and accurate HLA typing through multiplexing.

Conclusions:

  • The developed sequencing methodology offers an accurate and scalable solution for HLA typing.
  • This technology can significantly advance disease-association studies by enabling analysis of large patient cohorts.
  • The approach is adaptable for typing other highly polymorphic genes.