Clinical Genomics

<p>Section 1: Methods</p> <ol> <p> <li>Overview of technical aspects and chemistries of NGS: Dr Robi Mitra, Washington University School of Medicine.</li> <p> <li>Non-selective methods (genome-wide): Dr Mark Bogoski, Harvard Medical School</li> <p> <li>Capture based methods (exome, panels) Dr Birgit Funke, Harvard Medical School</li> <p> <li>Amplification based methods (panels): Dr Madhuri Hegde, Emory Medical School</li> <p> <li>Emerging technologies (Nanopore and others); impact on cost and turnaround time: Dr Elaine Mardis, Washington University School of Medicine.</li> <U> <p>Section 2: Bioinformatics</p></U> <p> <li>Base calling and alignment; quality metrics; depth of coverage: Dr Carl Volkerding, University of Utah, ARUP labs</li> <p> <li>Single nucleotide variants (SNVs): Dr David Spencer, Washington University School of Medicine</li> <p> <li>Insertions and deletions (Indels): Drs Eric Duncavage and Haley Abel, Washington University School of Medicine</li> <p> <li>Large structural alterations (big deletions, translocations, and so on): Dr Charles Mullighan, St Jude’s Cancer Institute</li> <p> <li>Copy number variants (CNVs): Dr Mary-Claire King, University of Washington</li> <U> <p>Section 3: Interpretation</p></U> <p> <li>Reference data bases for disease associations: Dr Heidi Rehm, Harvard Medical School</li> <p> <li>Reporting of results; level of evidence for associations; classes of associations: Dr Shashikant Kulkarni, Washington University School of Medicine</li> <p> <li>Constitutional diseases (with individual chapters on hypertrophic cardiomyopathy, congenital deafness, blindness, cancer syndromes, and so on): Dr David Bick and Dr David Dimmock, Medical College of Wisconsin</li> <p> <li>Cancer (with individual chapters on leukemia, lymphoma, lung cancer, colon cancer, and so on): Dr John Pfeifer, Washington University School of Medicine</li> <U> <p>Section 4: Regulatory Issues</p></U> <p> <li>Assay validation: Dr Ira Lublin, CDC and Dr Elizabeth Mansfield FDA</li> <p> <li>QA/QC/PT issues: Dr Elaine Lyon, University of Utah, ARUP labs </li> <p> <li>Consent and privacy issues: Dr James DuBois, Albert Gnaegi Center for Health Care Ethics</li> <U> <p>Section 5: Reimbursement</p></U> <p> <li>Billing: Andrew Drury and Kris Rickoff, Washington University School of Medicine</li> </ol>