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JAX Frontend Platform

TtGG Sequence Comparison & Identity Module

Master genetics and bioinformatics by using BLAST, UniProt, and PolyPhen-2 to compare sequences, identify DNA variants, and discuss bioethics in rare disease research.

Module Description

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.

Learning Objectives

  1. Calculate sequence percent identity to compare DNA, RNA, and protein sequences across individuals and species.
  2. Effectively utilize bioinformatics tools BLAST, PolyPhen-2, and UniProt to find and interpret biological data.
  3. Use sequence comparisons and percent identity calculations to demonstrate that changes in the genetic code can affect changes in protein sequence and structure, which can change protein function.
  4. Utilize percent identity calculations to support hypotheses about the evolutionary relationships between species.
  5. Discuss ethical considerations for rare disease research.

NGSS Alignments

Disciplinary Core Ideas
  • LS1.A Structure and Function
  • LS3.A Inheritance of Traits
  • LS3.B Variation of Traits
  • LS4.A Evidence of Common Ancestry and Diversity
Cross Cutting Concepts
  • Patterns
  • Structure and Function
  • Cause and Effect
Science & Engineering Practices
  • Asking Questions and Defining Problems
  • Analyzing and Interpreting Data
  • Using Mathematics and Computational Thinking
  • Constructing Explanations and Designing Solutions
  • Engaging in Argument from Evidence
  • Obtaining, Evaluating, and Communicating Information

Teacher Resources

Lesson Plan
Teacher Guide

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On Demand Webinar
Teacher Webinar

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Digital Download
Introduction to Sequence Comparison Teacher Slides

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Example Results Slides

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Teacher Feedback Form

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Student Activities: Sequence Comparison with TtGG Genes

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Sequence Comparison with ACE

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Sequence Comparison with OXTR

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Sequence Comparison with ACTN3

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Sequence Comparison with TAS2R38

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Sequence Comparison with CYP2C19

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Student Activities: Sequencing for Rare Disease Diagnosis

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Sequencing for Rare Disease Diagnosis: Scenario Introduction

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TtGG Identify a Variant using BLAST

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Connecting Protein Structure & Function

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Sequencing for Rare Disease Diagnosis: Final Reflection & Bioethics

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Video Tutorials

On Demand Video
BLAST Video Tutorial Series

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On Demand Video
UniProt Video Tutorial Series

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On Demand Video
PolyPhen-2 Video Tutorial Series

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Written Tutorials

Digital Download
BLAST Tutorial

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Digital Download
UniProt Tutorial

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PolyPhen-2 Tutorial

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Supplemental Resources

What are DNA Variants?

Minute to Understanding: What are DNA variants?

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.

Learn more

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