Research into Detection of De Novo Mutations and Fetal Trisomies – Video

Video Link: https://www.youtube.com/watch?v=6lJ_eTTVWjA

Research into Detection of De Novo Mutations and Fetal Trisomies
Learn more at http://www.lifetechnologies.com Identification of a single missense de novo mutation in ABCC9, a potassium channel which is causative of Cantu syndrome, a rare musculoskeletal/cardiac disorder. This discovery was made using trio exome sequencing on the SOLiD 5500 genetic analyzer. The discovery has led to greater understanding of the molecular etiology, and potential treatments for this syndrome. The talk also describes a fast whole genome sequencing analysis method to detect fetal trisomies non-invasively from maternal blood samples.From:LifeTechnologiesCorpViews:0 0ratingsTime:13:42More inScience Technology

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Research into Detection of De Novo Mutations and Fetal Trisomies - Video