View Only- Beyond Exomes: Going the Extra Mile-Beyond Exomes: Going the Extra Mile

Video Transcription

Video Summary

The video is a recording of the ACMG Genomics Case Conference, titled "Beyond Exome, Going the Extra Mile." The conference is hosted by the Greenwood Genetics Center and is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform. The presenters include Julie Jones, Director of the Clinical Genomics Sequencing Program at Greenwood Genetics Center, Dr. Katie Spellesey, Dr. Kaja Ellsworth, and Dr. Jenny Lee.<br /><br />The conference is intended for educational purposes and offers one CME credit. The presenters discuss different cases that required the use of whole exome sequencing beyond just the exome to find a diagnosis for the patients. They discuss the methods used, including bioinformatic pipelines and variant analysis. The cases include a patient with intellectual disability and congenital disorders of glycosylation, a patient with central hypothyroidism and metachondromatosis, a patient with speech delay and vision problems, and a patient with hypotonia and spinal muscular atrophy. The presenters provide details on the genetic variants found and their implications for the patients' conditions. The video concludes with a Q&A session.

Asset Subtitle

Hosted by Greenwood Genetic Center

Keywords

ACMG Genomics Case Conference

Beyond Exome, Going the Extra Mile

Greenwood Genetics Center

QIAGEN Bioinformatics

educational purposes

whole exome sequencing

genetic variants

Q&A session