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• W2891834222 abstract "The mitochondrial (mt) genome contains Single Nucleotide Variants (SNVs) that can differentiate individuals and is commonly used in population genetic studies and ancestry. Since the mt genome is maternally inherited, it provides a novel opportunity for DNA-based confirmation of maternal origin of embryo biopsies during Preimplantation Genetic Testing for Aneuploidy (PGT-A) by Next Generation Sequencing (NGS). Typically, biopsies from different patients are processed and sequenced together. The mt genome is sequenced during routine PGT-A and the depth and breadth of coverage obtained from DOPlify and PG-Seq readily allows SNV analysis, even from a 48 sample NGS run. This study aimed to investigate the clinical performance of RHS’ custom Embryo ID SNV panel. A large putative panel of mt SNVs was collated from published literature and PG-Seq clinical data. SNVs associated with disease-related markers or in regions of known lower depth of coverage were excluded. A panel comprising 48 SNVs was compiled for evaluation. Three PG-Seq scenarios were modelled, wherein patients had 4, 2 or 1 embryos analysed each. The performance of the panel was tested across 10,000 in-silico PG-Seq runs for each scenario using randomly selected mt genomes from a globally-diverse database of 377 individuals (http://www.mtdb.igp.uu.se/). Subsequent analysis of a clinical dataset of mt genomes from 52 patients using the 48 SNV panel led to the addition of a population-specific panel comprising another 23 SNVs. Using the global mt genome database and modelling embryos from 12, 24 or 48 patients, on average the SNV panel differentiated 91.5%, 84.6% or 75.0% of embryos, respectively. For the clinical PG-Seq NGS files the 48 SNV panel on average differentiated 88.5%, 79.0% or 65.3% of embryos, respectively. The addition of the population-specific panel improved differentiation to 99.3%, 98.3% or 96.3% of embryos, respectively. In a clinical setting, if embryo signatures match, the rest of the mt genome can be used to further differentiate samples. RHS’ PG-Seq and Embryo ID SNV panel readily generates a unique embryo signature providing a simple novel identification protocol. RHS’ Embryo ID SNV panel has the potential to improve PGT-A practice by providing a DNA-based confirmation of maternal origin and sibling embryo identification. The discriminatory power of the panel is improved simply by inclusion of population-specific SNVs. Embryo ID will be incorporated into a future release of PG-Seq software." @default.
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• W2891834222 date "2018-09-01" @default.
• W2891834222 modified "2023-10-16" @default.
• W2891834222 title "Clinical embryo sample tracking using the mitochondrial genome" @default.
• W2891834222 doi "https://doi.org/10.1016/j.fertnstert.2018.07.1176" @default.
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