Technology

Illumina Next Generation Sequencing  

Whole-genome sequencing (WGS) will be performed using Illumina next generation sequencing reagents and instrumentation. This technology provides a high-throughput, high-resolution base-by-base view of the genome by generating data to cover each base of the genetic code (A, G, T, C) more than 30 times. The WGS approach involves processing the isolated DNA from the child and up to both parents, fragmenting the genome into small fragments, sequencing these fragments (up to 1.1 billion) to generate the order of A, T, C, G for each fragment, and then reassembling all the fragments in a complete genome using known human genome reference sequence. Using established computational approaches, comparison of genomes between the child and parent, and use of databases that curate important variants, a report noting likely important DNA changes will be provided to the clinical team.  

Bionano Genomics Saphyr System   

Bionano Genomics Saphyr System is a technology that performs optical genome mapping (OGM) allowing for a high-resolution view of a different type of genetic variation, including copy number variation, insertion/deletion, and translocation that is not readily available from WGS analysis. In total, the integration of data from WGS and OGM provides a more comprehensive view of the genetics of each patient and will significantly increase our ability to make a definitive genetic diagnosis.

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