View Only- Next-Generation Sequencing for Somatic Variant Detection in Patients with Overgrowth and Related Disorders-Next-Generation Sequencing for Somatic Variant Detection in Patients with Overgrowth and Related Disorders

Video Transcription

Video Summary

In this video, the presenters discuss the use of next-generation sequencing (NGS) for somatic variant detection in patients with overgrowth and related disorders. They mention that the conference is part of the ACMG Genomics Case Conference series, planned by the ACMG Education Committee. They highlight that all case materials have been formally consented for by the patients or their guardians. The presenters, who are from the Genomics and Pathology Services at Washington University School of Medicine in St. Louis, introduce themselves and mention that the activity is supported by an educational grant from QIAGEN Bioinformatics and the Injunuity Clinical Decision Support Platform.<br /><br />The presenters then discuss the utility of NGS in detecting low-variant allelic frequency somatic alterations and review the genes interrogated on the testing panels. They explain that somatic etiology of overgrowth disorders necessitates genetic evaluation of the involved tissue rather than blood. They also demonstrate the frequency of genetic variation associated with somatic overgrowth disorders in a clinical laboratory cohort.<br /><br />The presenters discuss case reviews in which they use the Clinical Genomics Workspace for NGS data acquisition, quality control reporting, variant identification, and annotation. They mention that clinical reports are drafted and sign-out occurs by board-certified faculty. They present several cases that were recently identified in the lab, showing the detection of pathogenic or likely pathogenic variants in patients with various overgrowth disorders.<br /><br />The presenters conclude by highlighting the importance of detailed clinical information and the usefulness of NGS in detecting somatic variants. They thank the ACMG for allowing them to present and acknowledge their staff, patients, and ordering clinicians. They provide a list of references for further reading and encourage attendees to ask questions through the Q&A box.

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Hosted by Washington University School of Medicine

Keywords

next-generation sequencing

somatic variant detection

overgrowth disorders

ACMG Genomics Case Conference

genetic evaluation

clinical reports

pathogenic variants

clinical laboratory cohort

detailed clinical information