<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

Autism Spectrum Disorder study with SNP/CNV Genotypes (NGS), WGS data on dbGaP (5 participants)

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

Description

Applying For Access

Summary