View Only- The Importance of the X in eXome-The Importance of X in eXom

Video Transcription

Video Summary

The video transcript is from a conference called the ACMG Genomics Case Conference. The conference is focused on discussing actual cases and the clinical and laboratory evaluation through the application of genome scale testing for patients. The presenters of the conference are from UCSF. The title of the conference is "The Importance of the X in Exome." The video transcript covers the presentations and discussions on X-linked inheritance and X chromosome biology, three interesting cases involving X-linked intellectual disability, and the advantages and disadvantages of whole exome sequencing versus panel testing for X-linked intellectual disability. The presenters also discuss the importance of X inactivation and its potential role in cancer cells. Other topics include the phenotypic variability in X-linked disorders, X-inactivation studies in mothers to understand the significance of a gene variant, and the use of X exome and FRAX testing to identify causative mutations in X-linked intellectual disability. The transcript also mentions the availability of educational credits for physicians who participated in the conference and the resources and databases available for exploring XLID variants. The conference is supported by the American College of Medical Genetics and Genomics and sponsored by QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Keywords

ACMG Genomics Case Conference

genome scale testing

X-linked inheritance

X chromosome biology

X-linked intellectual disability

whole exome sequencing

X inactivation

XLID variants