View Only- Featuring the 2020 Digital Edition of Genetics Counselor Forum on Requesting and Working with Raw Genomic Data from the ACMG 2020 Digital Edition- OnDemand-Genetics Counselor Forum on Requesting and Working with Raw Genomic Data from the ACMG 2020 Digital Edition- OnDemand

Genetics Counselor Forum on Requesting and Working with Raw Genomic Data from the ACMG 2020 Digital Edition- OnDemand

Video Transcription

Video Summary

In the first video, Dr. John Burnett hosts a genetics conference where speakers Casey Genetti, Dr. Jesse Walsh, and Dr. Matthew Lebo discuss the process of requesting and working with raw genomic data. They cover obtaining and storing raw data from next-generation sequencing, including various file types like FASTQ, BAM, CRAM, VCF, and VCS. The presenters explore the uses of raw data for reanalysis, gene discovery, and patient access. They also outline the steps for requesting raw data, emphasizing consent and the need for consensus guidelines. Considerations for analysis, such as tools, file compression, and reproducibility challenges, are addressed.<br /><br />In the second video, the speaker focuses on reviewing raw genomic data outside of a clinically validated environment. They stress the importance of understanding genomic standards and checking for false positive variant calls and low quality reads. Relevant variant interpretation tools like VEP, NOMAD, and ClinVar are recommended, along with visualizing raw reads using IGV. The speaker highlights the utility of resources like Matchmaker Exchange for sharing phenotypic and genomic information. They caution against relying solely on computational predictions and population frequency data. Reanalysis and collaboration between labs and clinicians are strongly advocated, and the video touches on limitations in accessing raw data files and the option of partnering with researchers for reanalysis.<br /><br />Both videos provide valuable insights into the process and considerations involved in working with raw genomic data, covering topics like obtaining, storing, analyzing, and interpreting the data, as well as the importance of collaboration and utilizing relevant tools and resources.

Keywords

raw genomic data

next-generation sequencing

reanalysis

gene discovery

patient access

consent

analysis tools

variant interpretation

visualizing raw reads

collaboration