May 17, 2018
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Elucidating Inherited Disorders via Streamlined Analysis of Gene Panels and Whole-Exome Sequencing


Professor, Dept of Clinical Genetics, Uppsala University Hospital, Sweden

This webinar discusses how streamlined selection of library preparation, data analysis, and variant assessment workflows can make next-generation sequencing readily accessible for labs studying inherited disorders, particularly in cases where data analysis is currently a bottleneck.

Our speaker, Professor Marie Louise Bondeson of Uppsala University, from the department of Clinical Genetics, shares her lab’s experience building an NGS research workflow comprising gene panel testing, exome sequencing, and data analysis.  

Dr. Bondeson’s team has evaluated the SureSelect Custom Constitutional Panel 17Mb (CPP17) for implementation of gene panel testing. The CPP focuses only on genes with known disease associations. For whole-exome sequencing, her lab has evaluated SureSelect Human All Exon v7, which is a comprehensive exome that focuses on the interpretable part of the genome.

Dr. Bondeson describes how her team analyzed the NGS data with an in-house bioinformatics pipeline and then compared that with Alissa Align & Call. Filtration and variant interpretation was performed using Alissa Interpret according to the lab’s workflow.


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