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Updated: Oct 6, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Skim-Based Genotyping by Sequencing Using a Double Haploid Population to Call SNPs, Infer Gene Conversions, and
1School of Biological Sciences, University of Western Australia, Perth, WA, Australia. Philipp.bayer@uwa.edu.au.
Abstract:
Genotyping by sequencing (GBS) is an emerging technology to rapidly call an abundance of single nucleotide polymorphisms (SNPs) using genome sequencing technology. Several different methodologies and approaches have recently been established, most of these relying on a specific preparation of data. Here we describe our GBS pipeline, which uses high coverage reads from two parents and low coverage reads from their double haploid offspring to call SNPs on a large scale. The upside of this approach is the high resolution and scalability of the method.
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