A consortium of leading informatics laboratories at Harvard, MIT, and BU, supported by a grant from the National Library of Medicine.
NGS - Module 3
Module 3: NGS - Clinical Applications and Implications
OBJECTIVE: Acquire knowledge of disease association studies, cancer genomics, personalized medicine, and clinical implications of NGS.
|Videos and Slides||References and Resources|
NGS - Clinical Applications and Implications I
NGS - Clinical Applications and Implications II
NGS - Clinical Applications and Implications III
Guest Lecture: Mark Boguski, PhD
Whole Genome Analysis as a Universal Diagnostic - A Pathologist’s Perspective
Guest Lecture: George M. Church, PhD
|Tools and databases useful for investigating associations between genetic variation and human disease:
Clinical sequencing publications:
The promise of personalized medicine:
Review, identify, examine and then report on a clinically actionable set of information or metric based on one or more genetic variants. Study and identify the original discovery of the variant(s) and review the original scientific hypothesis relating the variant to the disease or symptom. Trace the progress of the discovery and translation of the variant(s) from discovery, to association with the disease status, to validation, to incorporation into clinical tool or device, to validation of the device or tool, to current status (widespread or even rare use) in healthcare. In short, record the narrative from bench to bedside. Review the literature relevant to the background, science, validation and current clinical use. Include a discussion of the key data sources used to develop the clinical use of the variant(s). Discuss the use of NGS technology, data, algorithms, methods and analysis in the narrative. If NGS was not used, project how NGS technology could be used to replicate the findings, or in place of the technologies that were used, to discover and validate new clinically relevant variants. Write a "translational" statement (minimum ten pages) on the question, background, data collection design and methods relevant to the development from discovery to use.