On-Demand Workshop and Poster: AVITI™ Variant Calling Performance and Rare Disease

Access to affordable, top-tier whole-genome sequencing is crucial to progress against rare and undiagnosed diseases. In collaboration with TGen, part of City of Hope, Element presents an AVITI-based research study that identifies the likely genetic causes of neurological disorders in children. Employing a novel design that sequences the parents at half the child’s coverage allows the trio to be sequenced on one flow cell and still identify de novo variants.

Element produced a poster and workshop detailing the study for ASHG 2023. If you missed these events or want to revisit the particulars, register to watch the workshop recording and download the poster.

Register to access the full workshop and poster

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