A review of pre-implantation genetic testing technologies and applications

RQ Du, DD Zhao, K Kang, F Wang, RX Xu… - Reproductive and …, 2023 - mednexus.org
The first practice of pre-implantation genetic testing (PGT) was reported more than 30 years
ago. PGT, originally named preimplantation genetic screening (PGS) and pre-implantation …

Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations

A Capalbo, G de Wert, H Mertes… - Human reproduction …, 2024 - academic.oup.com
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF)
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …

OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing

M Hornak, K Bezdekova, D Kubicek, R Navratil… - Journal of Assisted …, 2024 - Springer
Purpose Preimplantation genetic testing for monogenic disorders (PGT-M) allows early
diagnosis in embryos conceived in vitro. PGT-M helps to prevent known genetic disorders in …

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing

D Backenroth, G Altarescu, F Zahdeh, T Mann… - Scientific Reports, 2023 - nature.com
Recent advances in genomic technologies expand the scope and efficiency of
preimplantation genetic testing (PGT). We previously developed Haploseek, a clinically …

Preimplantation genetic testing: A remarkable history of pioneering, technical challenges, innovations, and ethical considerations

KE Latham - Molecular Reproduction and Development, 2024 - Wiley Online Library
Preimplantation genetic testing (PGT) has emerged as a powerful companion to assisted
reproduction technologies. The origins and history of PGT are reviewed here, along with …

Extended application of PGT-M strategies for small pathogenic CNVs

X Hu, W Wang, K Luo, J Dai, Y Zhang, Z Wan… - Journal of Assisted …, 2024 - Springer
Purpose The preimplantation genetic testing for aneuploidy (PGT-A) platform is not currently
available for small copy-number variants (CNVs), especially those< 1 Mb. Through …

Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for …

P Zhang, X Zhao, Q Li, Y Xu, Z Cheng… - Frontiers in Molecular …, 2024 - frontiersin.org
Preimplantation genetic testing for monogenic diseases (PGT-M) can be used to select
embryos that do not develop disease phenotypes or carry disease-causing genes for …

[HTML][HTML] A precise and cost-efficient whole-genome haplotyping method without probands: preimplantation genetic testing analysis

Z Zhang, K Kang, L Xu, X Li, S He, R Xu, L Jia… - Reproductive …, 2024 - Elsevier
Research question Is there a precise and efficient haplotyping method to expand the
application on preimplantation genetic testing (PGT)? Design In this study, 8 cell line …

[HTML][HTML] Into the Microscale: Low-input sequencing technologies and applications in medicine

Y Li, F Xu, J Qiao, P Yuan - The Innovation Medicine, 2023 - the-innovation.org
Sequencing technology has undergone major breakthroughs over time and has become
indispensable in biological and medical research. Advances in protocols and analysis …

msCNVS: medium throughput single cell copy number variation sequencing with barcoded library construction free of preamplification toward clinical implementation

G Lin, B Peng, C Chen, Z Dong, M Xu, J Gao, J Yu… - bioRxiv, 2024 - biorxiv.org
Single cell copy number variation sequencing (scCNV-seq) is valuable for genomic analysis
of a variety of health and disease systems, yet the available methods either depend on …