Genetic Diagnosis and Gene Discovery in Pediatric Ocular Disorders Using VarSeq
Presented By: Linda Reis, Certified Genetic Counselor and Program Manager at Medical College of Wisconsin
Linda and her team are primarily researching developmental ocular disorders, including anterior segment dysgenesis, MAC spectrum (microphthalmia/ anophthalmia/ coloboma), early-onset cataracts or glaucoma, as well as optic nerve phenotypes are severe ocular disorders with a strong genetic component. Specific genetic diagnosis is important to families as it may guide medical management and provides accurate recurrence risk information. Identification of unique variants within known genes as well as novel genetic factors enhances our understanding of normal eye development and disease phenotypes and provides new targets for study in our animal model, zebrafish.
Watch below as Linda discusses her research of pediatric ocular disorders using VarSeq.
Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here. Popular Products SNP & Variation Suite is a powerful analytic tool that allows biologists and other researchers to easily perform complex analyses and visualizations on genomic and phenotypic data. VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes, and whole genomes. Built on the same algorithms of Varseq, VSWarehouse is a scalable, multi-project warehouse for NGS variant call sets, clinical reports, and catalogs of variant assessments. Watch on demand
