Epigenetics & Chromatin

By optimizing a novel sample preparation technology for single cell next generation sequencing and combining with a specifi c variant calling algorithm we aim to demonstrate the clinical utility of this workfl ow to provide deeper genetic and diagnostic insights into embryo viability before implantation in IVF treatment. IVF has become a routine treatment for assisting pregnancy, since it was fi rst pioneered in the UK in 1978. Pre-implantation genetic screening and diagnosis (PGS or PGD) were also fi rst pioneered in the UK during the early 90's and have now developed to provide an array of genetic tests to assess embryonic health and viability prior to reimplantation. However, despite the high costs for PGS and PGD, the overall success rates of IVF are still low, as current methods do not allow thorough inspection of cells and genetic abnormalities impacting viability evade detection. We will discuss the suitability of a novel, single-cell, Next-Generation Sequencing (NGS) workfl ow to provide advanced insights into the genetic composition of embryos. In order to validate this technology as a tool for genetic testing, we are developing a sequence alignment, structural variant and copy number calling algorithm. Th e combination of a unique NGS workfl ow with a bioinformatic platform allows the comprehensive assessment of an embryo, with the outlook of improving the overall success rates of IVF and to continue the pioneering work in this field.