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Cambridge Healthtech Institute’s Fourth Annual

Genomic Knowledge Bases, Annotation and Interpretation

Data Considerations and Solutions for Genomic Medicine

February 23-24, 2017 | Moscone South Convention Center | San Francisco, CA
Part of the 24th International Molecular Medicine Tri-Conference


Next generation sequencing (NGS) has revolutionized genomics and is now being widely adopted for clinical sequencing. Whole exome or whole genome sequencing (WES/WGS) is the ultimate genetic test and many success stories provide a taste of its power. Targeted NGS-based gene panels are typically an order of magnitude smaller than WES/WGS-based testing but follow the same principles. However, while the cost of generating high-quality whole genome sequence data is rapidly dropping, analysis of the enormous number of variants detected is still very complex, and a task of annotating NGS data for clinical grade reporting and interpretations remains a challenge. Cambridge Healthtech Institute’s Fourth Annual Genomic Knowledge Bases, Annotation and Interpretation symposium is designed to discuss best practices in NGS data analysis, and NGS results annotation, interpretation, disclosure and applications.

Topics will include, but are not limited to:

  • Best practices for NGS results interpretation and annotation across various therapeutic areas and indications
  • Public and commercial knowledge bases/databases
  • Development and validation of NGS data pipelines
  • Annotation and interpretation of somatic mutation data
  • Annotation and interpretation of germline mutations
  • N-of-1 genomic-guided clinical trials: data analysis and results application
  • Building an in house database: examples and case studies
  • Examples of challenging to interpret and annotate cases
  • Annotation of RNA sequencing
  • Disclosing incidental and secondary findings: best practices
  • Carrier status reports
  • Genomic networks: new paradigm of data sharing
  • New requirements for informed consent

If you would like to submit a proposal to give a presentation at this meeting, please click here.

The deadline for submission is July 25, 2016.

All proposals are subject to review by the Scientific Advisory Committee to ensure the highest quality of the conference program. Please note that due to limited speaking slots, preference is given to pharmaceutical and biotech companies, regulators and those from academia. Additionally, vendors/consultants who provide products and services to these biopharmaceutical companies are offered opportunities for podium presentation slots based on a variety of Corporate Sponsorships.

For more details on the conference, please contact:

For partnering and sponsorship information, please contact:

Marina Filshtinsky, M.D.
Senior Director, Conferences
Cambridge Healthtech Institute
T: (+1) 781-972-5496
E: mfilshtinsky@healthtech.com

Jon Stroup (Companies A-K)
Senior Manager, Business Development
Cambridge Healthtech Institute
T: (+1) 781-972-5483
E: jstroup@healthtech.com

Joseph Vacca (Companies L-Z) 
Director, Business Development
Cambridge Healthtech Institute
T: (+1) 781-972-5431
E: jvacca@healthtech.com