For everything from Dose-Response Curve fitting to statistical analysis and analysis of DNA sequence variants in patients with rare inherited retinal conditions, there are many software tools that I use. If you need some help getting into using these tools, you can always ask me. (Ken Mitton, Eye Research Institute, Oakland University)
Human Genetics Tools: Useful for Pediatric Retinal Disease DNA-Sequencing
- e!Ensembl Tools (USWest Server) EMBL-EBI (VEP is here)
- Gene2Phenotype Database from EMBL
- Medical Genetics and Human Variation Tools at NCBI (CLINVAR is here)
- GnomAD Browser at Broad Institute
- HGVS Recommendations for Sequence Variant Nomenclature
- Converting feature coordinates between Genome Builds: How to at NCBI
Sources for R
Ken Mitton, PhD 