Basics of Exome Sequencing | Genetics 101 | Ambry Genetics

Audience members will receive a background on exome sequencing technology to better understand the advantages and limitations to the methodology. The presentation will cover the full laboratory process including sample preparation, sequencing data formats, variant filtering, gene-disease prioritization and report structure.
This webinar plans to accomplish several objectives including, review exome technology and resulting data files, common applications, what makes exome sequencing unique, and a day in the life of an exome sample.
Presented by:
Meghan Towne, MS, CGC, LGC
After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for gene discovery, enhancing research collaborations, and evaluating the utility of genomic sequencing in newborns. In 2016, Meghan joined Ambry as an exome reporting genetic counselor on the clinical genomics team before transitioning to the Clinical Affairs team as a Senior Clinical Affairs Research Specialist in 2019. Meghan also maintains her research connections to the Boston community by serving as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at Boston University.

[@joaopauloluz7793]

Does someone have a guide for what filters should one use for calling high quality variants

[@jamesraymond1158]

At what point in the video do you show "a day in the life of an exome sample"? I searched for it but couldn't find it

[@hebaalmaghrbi6800]

you can find it in the case examples toward the end of the lecture