Related Experiment Video
Updated: Jan 31, 2026
09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
9.9K
Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform
Li-Ya Wang1, Xing-Qiang Rao2, Yu-Qin Luo1
1Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University) Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, 310006, China.
Human Genomics
|January 5, 2019
Summary
Semiconductor sequencing platform (SSP) for preimplantation genetic diagnosis/screening (PGD/S) is highly compatible with whole-genome amplification kits. This SSP-PGD/S method offers a rapid, accurate, and cost-effective alternative to array comparative genomic hybridization.
Area of Science:
- Genomics
- Reproductive Medicine
- Bioinformatics
Background:
- Semiconductor sequencing platforms (SSP) are emerging technologies for genetic analysis.
- Preimplantation genetic diagnosis/screening (PGD/S) is crucial for in vitro fertilization (IVF) success.
- Evaluating novel platforms for PGD/S is essential for improving reproductive outcomes.
Purpose of the Study:
- To assess the applicability and efficiency of SSP for PGD/S.
- To compare SSP-based PGD/S with existing array comparative genomic hybridization (array-CGH) methods.
- To validate the performance of SSP with different whole-genome amplification (WGA) kits.
Main Methods:
- Tested SSP-PGD/S using artificial DNA and 557 single blastomeres from IVF couples.
- Employed two widely used WGA kits for sample preparation.
- Analyzed WGA products using SSP and compared results with array-CGH.
Main Results:
- SSP-PGD/S showed high compatibility with two commercial WGA kits.
- The method detected 24-chromosome aneuploidies and microdeletions/microduplications (>4 Mb) with high accuracy.
- Achieved 100% concordance with array-CGH for classifying embryo transplantability.
Conclusions:
- SSP-PGD/S is a viable and efficient alternative to array-CGH.
- This technology ushers in a new era of faster, more accurate, and economical PGD/S.
- SSP-PGD/S enhances the potential for successful IVF outcomes through improved genetic screening.
Related Concept Videos
02:46Genetic Screens
5.7K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.7K
01:22Semiconductors
1.5K
There is variation in the electrical conductivity of materials - metals, semiconductors, and insulators that are showcased with the help of the energy band diagrams.
Metals such as copper (Cu), zinc (Zn), or lead (Pb) have low resistivity and feature conduction bands that are either not fully occupied or overlap with the valence band, making a bandgap non-existent. This allows electrons in the highest energy levels of the valence band to easily transition to the conduction band upon gaining...
Metals such as copper (Cu), zinc (Zn), or lead (Pb) have low resistivity and feature conduction bands that are either not fully occupied or overlap with the valence band, making a bandgap non-existent. This allows electrons in the highest energy levels of the valence band to easily transition to the conduction band upon gaining...
1.5K
01:20Types of Semiconductors
1.4K
Intrinsic semiconductors are highly pure materials with no impurities. At absolute zero, these semiconductors behave as perfect insulators because all the valence electrons are bound, and the conduction band is empty, disallowing electrical conduction. The Fermi level is a concept used to describe the probability of occupancy of energy levels by electrons at thermal equilibrium. In intrinsic semiconductors, the Fermi level is positioned at the midpoint of the energy gap at absolute zero. When...
1.4K
01:24Metal-Semiconductor Junctions
981
The contact of metal and semiconductor can lead to the formation of a junction with either Schottky or Ohmic behavior.
Schottky Barriers
Schottky barriers arise when a metal with a work function (Φm) contacts a semiconductor with a different work function (Φs). Initially, electrons transfer until the Fermi levels of the metal and semiconductor align at equilibrium. For instance, if Φm > Φs, the semiconductor Fermi level is higher than the metal's before contact. The...
Schottky Barriers
Schottky barriers arise when a metal with a work function (Φm) contacts a semiconductor with a different work function (Φs). Initially, electrons transfer until the Fermi levels of the metal and semiconductor align at equilibrium. For instance, if Φm > Φs, the semiconductor Fermi level is higher than the metal's before contact. The...
981
00:49What is Genetic Engineering?
80.1K
Overview
80.1K
01:27Biasing of Metal-Semiconductor Junctions
583
Biasing metal-semiconductor junctions involves applying a voltage across the junction. Specifically, the metal is connected to a voltage source, while the semiconductor is grounded. This technique is essential for controlling the direction and magnitude of current flow in electronic devices, including diodes, transistors, and photovoltaic cells.
In Schottky junctions, where the semiconductor is n-type, applying a positive voltage to the metal relative to the semiconductor reduces its Fermi...
In Schottky junctions, where the semiconductor is n-type, applying a positive voltage to the metal relative to the semiconductor reduces its Fermi...
583