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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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Updated: Nov 29, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Third-generation sequencing: any future opportunities for PGT?

Sai Liu1,2, Hui Wang1, Don Leigh2

  • 1Department of Obstetrics and Gynecology, The First Medical Center of PLA General Hospital, Medical School of Chinese PLA, 28 Fuxing Road, Beijing, 100853, People's Republic of China.

Journal of Assisted Reproduction and Genetics
|November 19, 2020
PubMed
Summary
This summary is machine-generated.

Third-generation sequencing on the Oxford Nanopore offers a versatile, economical approach to preimplantation genetic testing (PGT). This method can identify chromosomal abnormalities and genetic variations, aiding in selecting viable embryos for transfer.

Keywords:
Preimplantation genetic testing (PGT)Third-generation sequencing (TGS)

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Area of Science:

  • Genomics
  • Reproductive Medicine
  • Bioinformatics

Background:

  • Preimplantation genetic testing (PGT) is crucial for identifying genetic disorders in embryos before implantation.
  • Current PGT methods have limitations in speed, cost, and comprehensive analysis.
  • Third-generation sequencing (TGS) technologies offer potential advancements in genetic analysis.

Purpose of the Study:

  • To evaluate the Oxford Nanopore third-generation sequencing (TGS) system as a novel method for preimplantation genetic testing (PGT).
  • To explore TGS capabilities for detecting various genetic anomalies in embryos.

Main Methods:

  • Embryos with known structural variations were used.
  • Multiple displacement amplification (MDA) was performed to generate DNA fragments suitable for nanopore sequencing.
  • High-depth and low-pass sequencing strategies were employed.

Main Results:

  • TGS accurately identified deletion intervals for alpha thalassemia.
  • Short tandem repeats (STRs) were detectable for PGT-M linkage confirmation.
  • Translocation breakpoints were precisely identified, distinguishing carrier from non-carrier embryos.
  • Low-pass sequencing reliably detected whole-chromosome and segmental aneuploidies.

Conclusions:

  • Oxford Nanopore TGS presents a viable, versatile alternative for PGT.
  • It enables economical testing, assisting traditional PGT workups with long-read sequencing data.
  • TGS can facilitate combined PGT for aneuploidy (PGT-A) and structural rearrangements (PGT-SR), or stand-alone PGT for monogenic disorders (PGT-M).
  • Simultaneous aneuploidy detection aids in selecting balanced embryos or identifying carriers.
  • The low instrument cost democratizes onsite PGT for laboratories.