Course Description: Theory and practice of diagnostic laboratory methodologies and genomic data analyses for the clinical scientist. Sections are taught in a series of modules and include clinical case scenarios and analyses. With a change of content, this course may be repeated for credit.

 

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Section 3:

Genomics Data in the Clinical Lab: Dr. Cara Statz, Clinical Analyst, Jackson Laboratory for Genomic Medicine

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An introduction to bioinformatics for the design and analysis of diagnostic genetic tests. Topics covered include primer design and specificity verification, sequence alignments, interpretation of e-values, and use of various tracks within alignment programs to identify relevant clinical information. Students will search appropriate databases for the identification of gene mutations and/or variations identified during testing and/or associated with a phenotype or disease. Databases examined will include Gene Tests, OMIM, Mitelman, CGAP, PubMed, NCBI, DAVID, UCSC genome browser, RepeatMasker, HapMap, and others as appropriate. Clinical cases will be provided for the application of bioinformatics-associated sciences and technologies to retrieve and analyze biological literature and data. Clinical reporting of case data will be used to develop written communication of scientific information to patients and physicians. Email judy.brown@uconn.edu for course permission #

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