This course provides a detailed understanding of DNA sequencing technologies and genome sequence interpretation. Students will learn about the variety of sequencing techniques and platforms, including generated data types and file formats. Emphasis will be placed on the relative strengths of genotyping arrays, targeting sequencing, whole genome sequencing, and whole exome sequencing strategies in study design and clinical practice. The second half of the course will focus on individual and family-based sequencing projects, including the identification of single nucleotide polymorphisms, indels, copy number variants, and chromosome rearrangements and the determination of variant significance. Other topics may include personal identity testing, molecular anthropology, and somatic single cell sequencing.(GENE 430)
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