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Associate Research Scientist
The Associate Research Scientist will analyze genetic data for Mendelian traits using a vareity of laboratory and computational techniques.
Analyze next-generation sequence data (exome and whole-genome) generated on samples from individuals with a variety of Mendelian traits including nonsyndromic hearing impairment, intellectual disabilities, and skeletal disorders. Use filtering techniques, bioinformatics evaluation, and molecular modeling to identify putatively pathogenic variants will be used. Perform DNA extraction, measure DNA concentrations, and perform PCR. Write-up results for publications and present results and meetings.
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