Dr. Satish Sankaran
Vice President- Clinical Operations &
Laboratory Director- Clinical Lab
Strand Life Sciences
StrandNGS Website
Webinar on Unravelling complex mutational events in clinical cases using the power of Next Generation Sequencing Data Analysis
Next Generation sequencing has come a long way in aiding genetic disease diagnosis by bringing down both the time and cost of testing. Testing involves massively parallel sequencing of a single to 100s of genes in a one assay. With a large amount of sequence data getting generated from such assays, it is critical that the data is analyzed using standard analysis tools to detect wide range of variants. Strand Life Sciences, has tested more than 3000 clinical samples using multi-gene panels for diagnosis of rare disease conditions. NGS data analysis is done using the Strand NGS software and variant prioritization and reporting using StrandOMICS.
While most analysis software can easily detect single nucleotide variants, the complex ones involving insertions and deletions are usually missed. With multiple iterations the Strand NGS software is trained to effectively detect structural and copy number changes from a single NGS data set. This is critical in certain disease conditions like Retinoblastoma and Duchenne Muscular Dystrophy where there are clinically relevant deletions reported. In this presentation, we present four different case studies where we were able to detect mutations due to unusual and difficult regions in the genome from the NGS data. These results were further confirmed using orthologous methods.
About Speaker
Dr. Satish Sankaran, is the Vice President and Lab Director of Clinical Operations and Clinical Lab, Strand Life Sciences. He manages Strand's clinical diagnostics laboratory setup, operations, and CAP and NABL compliance. During his 15 years of extensive work experience in the fields of cell and cancer biology, and biochemistry he has successfully published in peer-reviewed journals. Dr. Satish earned his Ph.D in Life Sciences from Jawaharlal Nehru University and pursued post-doctoral training at the Harvard Medical School affiliated hospitals, Brigham and Women's and Massachusetts General.
Session 1 : 31 Jan 2018; 9:00 AM CET
Session 2 : 31 Jan 2018; 8:00 AM PST
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Strand Bioinformatics