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Updated: Nov 8, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Personalized genome structure via single gamete sequencing
Ruqian Lyu1,2, Vanessa Tsui3,4, Davis J McCarthy5,6
1Bioinformatics and Cellular Genomics, St. Vincent's Institute of Medical Research, Melbourne, Australia.
Abstract:
Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual's genome, which historically has been performed with populations and pedigrees. Here, we discuss how single-cell gamete sequencing offers the potential to merge the advantages of short-read sequencing with the ability to build personalized genetic maps and open up an entirely new space in personalized genetics.
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