Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing

International Journal of Molecular Sciences

Anna Miskova¹  Linda Gailite²  Ludmila Volozonoka² 

[1] Department of Obstetrics and Gynaecology, Riga Stradins University, LV-1007 Riga, Latvia;Scientific Laboratory of Molecular Genetics, Riga Stradins University, LV-1007 Riga, Latvia;

关键词: whole genome amplification;    preimplantation genetic testing;    embryo;    next generation sequencing;    massively parallel sequencing;    haplotype;   

DOI  :  10.3390/ijms23094819

来源: DOAJ

【 摘 要 】

Successful whole genome amplification (WGA) is a cornerstone of contemporary preimplantation genetic testing (PGT). Choosing the most suitable WGA technique for PGT can be particularly challenging because each WGA technique performs differently in combination with different downstream processing and detection methods. The aim of this review is to provide insight into the performance and drawbacks of DOP-PCR, MDA and MALBAC, as well as the hybrid WGA techniques most widely used in PGT. As the field of PGT is moving towards a wide adaptation of comprehensive massively parallel sequencing (MPS)-based approaches, we especially focus our review on MPS parameters and detection opportunities of WGA-amplified material, i.e., mappability of reads, uniformity of coverage and its influence on copy number variation analysis, and genomic coverage and its influence on single nucleotide variation calling. The ability of MDA-based WGA solutions to better cover the targeted genome and the ability of PCR-based solutions to provide better uniformity of coverage are highlighted. While numerous comprehensive PGT solutions exploiting different WGA types and adjusted bioinformatic pipelines to detect copy number and single nucleotide changes are available, the ones exploiting MDA appear more advantageous. The opportunity to fully analyse the targeted genome is influenced by the MPS parameters themselves rather than the solely chosen WGA.

【 授权许可】

Unknown