Illustrations of Project Baby Magnolia Whole Genome Sequencing Technology

Overview

Illustration 1, Illumina Sequencing - WGS, depicts a three-step process for genome sequencing. Illustration 2, Bionano - OGM/Structural Variations, contains graphs of how the sequencing is read.

Values

The left panel labeled #1 Illumina Sequencing – WGS diagrams the main steps in performing whole genome sequencing (also known as WGS) of a patient collect DNA sample. The first step shows that DNA isolated from patient blood undergoes a process to break the DNA into small pieces. The second step is that each piece of DNA is sequenced using an instrument called the Illumina NextSeq2000 sequencer. The third step is that each sequenced DNA piece is aligned to the intact human reference genome using computer software, resulting in an overlapping tile pattern of small pieces that reconstructs each patient genome. The patient’s genome is then compared to the reference to identify small DNA differences, such as change in one letter code (A,G,C,T) of the DNA that could be associated with the health problem.

The right panel labeled #2 Bionano – OGM/Structural Variations diagrams the main steps in applying a technology called structural variation analysis of patient collect DNA samples. This is different than the small, single bases changes analyzed using whole genome sequence described from #1 (Illumina Sequencing-WGS. Bionano Genomics Saphyr technology is used to evaluate different types of structural variation. The DNA isolated from blood is kept intact, in contrast to WGS, and this technology seeks to identify large DNA changes including deletion of large regions of DNA, insertion of large DNA regions, rearrangements of DNA pieces from one chromosome to another and/or inversion of DNA, which is a change in DNA direction.

Presentation

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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