AUG 20, 2014 10:30 AM PDT

One Platform. Many Analyses

Speaker
  • Field Application Scientist, Ingenuity Systems, a Qiagen company, Neihaus research fellow, Memorial Sloan Kettering Cancer Center
    Biography
      Sohela has a PhD in genetics from the Sackler School of Biomedical Sciences at Tufts University. After completing her postdoc in Human Genetics at University of California San Francisco, she joined Memorial Sloan Kettering Cancer Center as Neihaus fellow. She came to Ingenuity in 2013 as a Field Application Scientist.

    Abstract

    Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for calling variants have greatly improved, biological interpretation remains challenging. Ingenuity Variant Analysis enables rapid identification and prioritization of variants by filtering down to a small, targeted subset using analytical tools and published biological evidence. Here we present four examples of sequence data interpretation, using small or large datasets, for hereditary to large cohort studies, as well as somatic variants analysis.


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