Project Resources

If you are just getting started in bioinformatics or genomic research, there is a lot to learn. You will find cryptic acronyms everywhere and may need a refresher on amino acids. Use these resources to improve your foundational knowledge and discover new tools for finding and analyzing data. Explore the resources below to support your projects and discover new tools to advance your work. The example projects and Getting Started suggestions will help you define a direction for your research. Use these resources to develop your own questions and start your journey of discovery.

Getting Started

Student Project Suggestions

This document is intended to introduce students to the wealth of research projects available to them. If you have an interest that is not on this list we encourage you to get in contact with us to discuss how to turn your interest into a project. Student Project...

Beginning a Research Project

This document is intended to guide the user through the initial steps of a bioinformatic research project. Project Overview_steps (Click Link to Download PDF)

Variant Descriptions & Consequences

This table is from Ensembl and provides a description of each variant type from the Sequence Ontology database.   This table is a comprehensive list of different types of genetic variants, and the predicted functional outcome on the associated protein.  ...

Online Resources

Varsome

 https://varsome.com/ Varsome is a database that provides information about genetic variations and their relationships to human health. It is a resource for researchers, clinicians, and other professionals who are interested in understanding the role of genetic...

Software and Tools (ConSurf)

The ConSurf server is a bioinformatics tool for estimating the evolutionary conservation of amino/nucleic acid positions in a protein/DNA/RNA molecule based on the phylogenetic relations between homologous sequences.The degree to which an amino (or nucleic) acid...

Software and Tools (PolyPhen-2)

PolyPhen-2is an automatic tool for prediction of possible impact of an amino acid substitution on the structure and function of a human protein. This prediction is based on a number offeatures comprising the sequence, phylogenetic and structural information...

Example Projects

A Comparative Study of Variants in the HDAC8 Gene Linked to Cornelia de Lange Syndrome Jennifer R. Olszyna University of North Alabama
ACVR1: Analyzing the Various Mutations of ACVR1 and How They Result in Fibrodys- plasia ossificans progressiva William Weatherby University of North Alabama
An Exploration HDAC8 Missense Swap I94T Khushmeet Kathuria University of North Alabama
An Exploration of CFTR Missense Swap G500D compared to Phe508del Dylan L. Uibel University of North Alabama
An Exploration of FGFR3 Missense Swap R669G Bliss Bailey University of North Alabama
An Exploration of GRIN2A with Landau-Kleffner Syndrome with a Missense Swap at G97D Grace Dodd University of North Alabama

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