Embgenix Analysis Software (CE-IVD)

The Embgenix Analysis Software is a cloud-based software for the analysis of sequencing data generated using Embgenix preimplantation genetic testing for aneuploidies (PGT-A). Using the Embgenix PGT-A Kit (CE-IVD), 1–5 trophectoderm (TE) biopsy cells or genomic DNA undergo whole genome amplification followed by library prep and indexing to prepare samples for sequencing. Following Illumina sequencing, FASTQ files are uploaded via a web page and analyzed to identify and report chromosome copy number variations (CNVs).

The algorithm computes calculated copy numbers (CCNs) using bin counts against an internally configured reference to determine CNVs accurately. The software allows the option for both automated and/or manual calls for whole chromosome, segmental, and mosaic aneuploidies, and data can be conveniently visualized in a chart or an idiogram plot. The software also supports downloadable PDF reports, which can be customized for individual laboratory needs.

Supported operating systems

• Windows OS: Version 7 and higher
• Mac OS: Sierra (Version 10.12) or higher 

Hardware requirements

Any standard desktop or laptop with the following specifications are recommended:

• Memory: 8 GB RAM or higher
• Free disk space: 100 GB or higher hard drive space
• Connectivity: connection to a high-speed and reliable internet network for upload of input data

Additional third-party software dependencies

• Web browser: Google Chrome (preferred), Safari, or Microsoft Edge
• Access to Illumina MiSeq® or NextSeq® sequencing data, stored either on the user's computer or a mapped network drive

Required input files

• Single- or paired-end FASTQ files generated by an Illumina MiSeq or NextSeq System as part of the Embgenix PGT-A Kit workflow.