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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
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.
- Study Weblinks:
- Study Design:
- Family/Twin/Trios
- Study Type:
- Affected Sib Pairs
- Family
- Parent-Offspring Trios
- Pedigree Whole Genome Sequencing
- Whole Genome Sequencing
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 5
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
One family was the focus of this study due to the amount of grant funding.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Autism Spectrum Disorder
- Autistic Disorder
- Links to Related Genes
- Authorized Data Access Requests
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See articles in PMC citing this study accession
- Study Attribution
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Principal Investigator
- Tychele N. Turner, PhD. Washington University in St. Louis, St. Louis, MO, USA.
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Principal Investigator