Master genetics and bioinformatics by using BLAST, UniProt, and PolyPhen-2 to compare sequences, identify DNA variants, and discuss bioethics in rare disease research.
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Master genetics and bioinformatics by using BLAST, UniProt, and PolyPhen-2 to compare sequences, identify DNA variants, and discuss bioethics in rare disease research.
This Sequence Comparison & Identity module aims to teach quantitative and data analysis skills in the context of genetics and bioinformatics. In this module, students use the bioinformatics tools BLAST, UniProt, and PolyPhen-2 to answer the question: what can we learn from comparing sequences across individuals and species?
The first part of the module introduces applications of sequence comparison using the five genes from the Teaching the Genome Generation™ laboratory curriculum. The second part of the module centers around a real research study on a rare neurodevelopmental disorder. First, students read a scenario that introduces you to some of the participants in the research study. Next, students use BLAST to identify variants in the patients’ DNA that could be contributing to their disorder. Then, students use bioinformatics tools to evaluate the potential impact of one of the patient’s DNA variants on protein structure and function. The module concludes with bioethics discussion prompts centered around rare disease research and health care access.
Explore DNA variants and discover how mutations during DNA replication make each organism unique. Learn about their role in genetic variation and their potential impact on life.
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