Simultaneous detection of chromosome abnormality in patients receiving preimplantation genetic testing for monogenic diseases

Here we report a novel PGT-A/M procedure allowing simultaneous detection of monogenic diseases and chromosomal abnormalities in one experiment. Library was prepared in a special way that multiplex polymerase chain reaction (PCR) was integrated into the process of whole genome amplification. The resulting library was used for one-step low-pass whole-genome sequencing (WGS) and high-depth target enrichment sequencing (TES). The TAGs-seq PGT-A/M was first validated with genomic DNA (gDNA) and the multiple displacement amplification (MDA) products of a cell line and the sequential data was stored in this databas.