Perform routine and complex laboratory techniques/procedures including: all aspects of DNA isolation, library preparation for next generation sequencing, Sanger sequencing for mutation detection in human disease associated genes, real-time digital PCR analysis for gene dosage and ultra low – level mosaicism analysis and other relevant functions of the laboratory. In addition, knowledge about knowledge and proficiency in Bioinformatic programs that involve analysis of next-generation sequencing data will be required.
Internal Number: 45280
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