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.