2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Invitae exome interpretation: Leading with science and innovation to bring exomes to scale

Invitae exome interpretation: Leading with science and innovation to bring exomes to scale

Video Transcription

Video Summary

The video content discusses the enhancements made to Invitae's exome platform, which allows for affordable and comprehensive exome sequencing for all patients. Exome sequencing is a method that examines the majority of coding exons in the genome to identify changes in DNA and provide a genetic diagnosis. This method is particularly useful in cases where the patient's condition involves multiple genes, is associated with intellectual disability or neurodevelopmental conditions, has involvement of multiple unrelated organ systems, or has undergone previous inconclusive genetic testing. The video also highlights the challenges of exome sequencing, including the constant evolution of gene phenotype information, the need for consistent gene-disease curation and variant interpretation frameworks, and the difficulty of implementing a scalable reanalysis program. Invitae's exome analysis combines automated gene and variant curation with expert evaluation to provide fast, reproducible, and accurate interpretation. They utilize the Moon intelligent engine, which integrates genetic and phenotypic data, and the Apollo software for continuous gene phenotype curation. Invitae also offers case-level reanalysis every six months at no additional charge to ensure that patients receive the most up-to-date information about their genetic data.

Asset Subtitle

Invitae

Keywords

Invitae

exome platform

affordable

genetic diagnosis

challenges of exome sequencing

gene-disease curation

variant interpretation frameworks