Conclusion
In today's session you learned to:
- Search for information about a human disorder => MedGen
- Find what is known about a clinical genetic variant => ClinVar
- Learn what is known about a gene, it's normal expression and function => NCBI Gene
- Map a genetic variant onto successive biological sequences with annotations => Genome Data Viewer (GDV), "Graphics" Sequence Viewer for NCBI Nucleotide and NCBI Protein database records
- Interpret all of the above information along with additional structure/function information => Conserved Domains database, CD-Search & iCn3D
- Predict the molecular impact of a variant and use this for understanding a patient’s disease etiology
We worked with some cool things today, how do I learn more about using them?
Viewing sequences and annotations in the Genome Data Viewer (GDV) & Sequence Viewer
- March 2022 Workshop: Using Genome Data Viewer for Human Variation Analysis
- YouTube Tutorial Videos for:
- March 2023 Workshop: Exploring 3D molecular structures with iCn3D
- iCn3D homepage
Learning about human genetic variants for implementation in clinical practice
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April 2023 Workshop including both a genetic disorder diagnosis & pharmacogenomics case study: NCBI Resources for genetics-based clinical decision support
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Clinical case study flyers: Disease Diagnosis | Pharmacogenomics Assessment
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Last Reviewed: August 19, 2024