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Mitochondrial genome coverage for copy number determination and detection of disease; the impact of WGA
Mutations in the mitochondrial genome (mtDNA) have been linked to diseases such as cancer, diabetes and deafness. Additionally, recent data suggests that mitochondrial genome load can impact implantation potential of euploid embryos. The selection of embryos for IVF transfer using the additional information from mitochondria requires an accurate and high coverage whole genome amplification (WGA) methodology. Additionally, since the mtDNA genome is 16,571bp in length and there are multiple copies per cell, this provides a model to evaluate performance of WGA technologies.
Aim – This study aimed to compare two different commercially available WGA kits; PicoPlex® (Rubicon Genomics) and DOPlify™ (RHS Ltd), evaluating overall mtDNA genome coverage along with coverage of 23 common mitochondrial mutations using NGS of the whole genome amplified single cells.
Development of a 5 hour PGS protocol for a day 5 fresh transfer
Chromosomal aneuploidies are the main cause of abnormal development of embryos and implantation failures. Preimplantation genetic screening (PGS) allows the selection of embryos with euploid chromosomal content and increases IVF treatment efficacy. PGS microarrays are traditionally hybridised for a minimum of 3 hours to overnight. The duration of hybridisation impacts on signal intensity, with shorter times typically reducing the array signal.
Aim – This study aimed to develop a novel hybridisation solution which could significantly decrease protocol duration, enabling same workday results and providing an opportunity for routine fresh transfers of PGS screened embryos.
Validation of EmbryoCellect® with SurePlex amplified embryo biopsies
Preimplantation genetic screening (PGS) array technologies are efficient and also very practical to perform without the need to batch large numbers of samples. The RHS’ EmbryoCellect® kit has previously been validated using euploid and commercially available aneuploid single cell and multi-cell samples for whole chromosome aneuploidy screening.
Aim – To determine the cross-compatibility of SurePlex amplified embryo biopsies and RHS’ EmbryoCellect® labelling and microarray hybridisation protocols for PGS.
Next Generation Sequencing (NGS) metrics following DOP-PCR whole genome amplification (WGA) of single and multi-cell samples for PGS
Whole genome amplification (WGA) is often used to generate sufficient DNA for downstream analysis.
The aim of this study was to compare Next Generation Sequencing (NGS) workflows and aligned read data metrics from a range of NGS platforms as models for Pre-implantation Genetic Screening (PGS) and Pre-implantation Genetic Diagnosis (PGD). Comparisons were made using single cell and 5-cell aliquots amplified utilizing the Reproductive Health Science Ltd proprietary DOP-PCR based WGA as described in the DOPlifyTM and EmbryoCellectTM kits.
Combined PGD and PGS: Enrichment of PGD genes during whole genome amplification
The aim of this study was to determine the feasibility of synchronous whole genome amplification and gene specific amplification by PCR for combined PGD for monogenic disorders and PGS for aneuploidy utilizing aCGH or NGS.
Combined PGD/PGS Using Whole Genome Sequencing in a Model of Blastomer and Trophectoderm Biopsy
The aim of this study was to investigate the potential for combined preimplantation genetic diagnosis and screening of inherited and de novo mutations using whole genome sequencing.