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The 2017 Galaxy Community Conference (GCC2017) is being held in Montpellier, France, 26-30 June.  GCC2017 will include keynotes and accepted talks, poster sessions, demos, birds-of-a-feather meetups, exhibitors, and plenty of networking opportunities. There will also be three days of pre-conference activities, including hackathons and training. If you work in data-intensive biomedical research, there is no better place than GCC2017 to present your work and to learn from others.
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Friday, June 30 • 15:20 - 16:35
P32: An odyssey into Galaxy: Quality control and quality assurance of NGS-based laboratory diagnostic tests offered by Newborn Screening Ontario

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➔ Poster


Lemuel J. Racacho  1,*

1 : Newborn Screening Ontario (NSO)
* : Corresponding author

Rapidly evolving genomic technologies, such as next generation sequencing (NGS), are being adopted by many public health laboratories to diagnose genetic disorders.  As Newborn Screening Ontario (NSO) implements NGS laboratory diagnostic testing (NGS-LDT), we are facing many challenges in defining, interpreting and monitoring various performance characteristics within the regulatory and privacy frameworks we must remain compliant to.  To date, we have evaluated all quality control (QC) checkpoints within our clinical pipeline using the available tools within a local instance of Galaxy. Additional QC nodes were later identified which enhanced our quality assurance (QA) program. One key benefit of using a local Galaxy is that it offers a simple and controlled visual environment to variant interpreters with little to no background in programming for assessing QC nodes in a clinical NGS pipeline.


Lemuel J. Racacho

Genomics Specialist, Newborn Screening Ontario

Friday June 30, 2017 15:20 - 16:35
Le Corum Le Corum