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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.

Weihua Zhao1, Yanyan Song2, Chuanfeng Huang3

  • 1Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health, Shenzhen, Guangdong, China.

BMC Medical Genomics
|January 23, 2024
PubMed
Summary

New reference materials for preimplantation genetic testing for monogenic disorders (PGT-M) targeting thalassemia have been developed. These validated materials ensure accurate genetic testing for inherited blood disorders, improving clinical outcomes.

Keywords:
Monogenic disordersNext-generation sequencingPreimplantation genetic testingReference materialsThalassemia

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Area of Science:

  • Reproductive Genetics
  • Molecular Diagnostics

Background:

  • Preimplantation genetic testing for monogenic disorders (PGT-M) is crucial for detecting serious inherited conditions.
  • A significant gap exists in validated reference materials (RMs) for PGT-M development and quality control.

Purpose of the Study:

  • To establish and validate novel reference materials for PGT-M specifically for thalassemia.
  • To ensure the accuracy and reliability of PGT-M testing for monogenic disorders.

Main Methods:

  • Developed 16 thalassemia cell lines (12 DNA, 4 simulated embryos) from four families.
  • Utilized next-generation sequencing for genotyping and haplotype analysis.
  • Assessed RM stability through freeze-thaw cycles and long-term storage.

Main Results:

  • Successfully established PGT-M reference materials for thalassemia.
  • Achieved concordant genotype and haplotype results across four accredited genetics laboratories.
  • Demonstrated long-term stability of the reference materials for over 3 years.

Conclusions:

  • The developed PGT-M reference materials for thalassemia aid in standardizing PGT-M testing.
  • These materials enhance the accuracy and reliability of PGT-M in clinical applications.
  • Facilitates improved genetic screening for inherited blood disorders.