<p>The purpose of this research study was to perform long-read whole-genome sequencing on a family with autism. This family had no known genetic cause based on clinical array and whole-exome sequencing analysis. Utilizing PacBio HiFi long-read whole-genome sequencing, we identified a relevant missense variant in the KCNC2 gene. This variant was likely to be a germline mosaic in the paternal germline.</p>

Identification of Structural Variants Relevant to Autism by Pacific    Biosciences HiFi Whole-Genome Sequencing

21 variables across Demographics, Disease Events, Race and Ethnicity

Identification of Structural Variants Relevant to Autism by Pacific Biosciences HiFi Whole-Genome Sequencing

Demographics (3)

Disease Events (3)

Race and Ethnicity (1)

Other (14)