Great list. Don't forget the Variant Effect Predictor (Coding/Protein, mostly), SnpEff (variety of fields), and DeepSea (Non-coding/Regulatory).
If you look at the materials and methods of (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449402/) this paper, they have suggested using any three tools from each method (sequence homology-based methods, supervised learning methods, protein sequence and structure-based methods and consensus-based methods) to find the deleterious SNP. How do I choose the three best tools for each method?
1 answer
Take your pick...
Sequence and evolutionary- / homology- / conservation-based methods (for missense predictions)
Protein sequence and structure-based methods (for missense predictions)
Supervised-learning methods (for missense predictions)
Splice predictions
Protein modelling (from amino acid sequence)
[uses various modelling algorithms and produces PDB files, which can be loaded into protein viewers like Jmol]
Non-coding (i.e. regulatory)
- CADD (germline variants)
- DANN (germline variants)
- FATHMM-MKL (germline variants)
- GWAVA (germline variants | somatic mutations)
- Funseq2 (somatic mutations)
- SurfR (rare variants | complex disease variants | all other variants)
Other
For further reading:
- UK perspective, refer to the guidelines by the Association for Clinical Genomic Science: http://www.acgs.uk.com/quality/best-practice-guidelines/
- US perspective, refer to American College of Medical Genetics: https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf
------------------------------------------------------------
I assure you that there are even more tools than these. These are categorised to the best of my and my colleague's knowledge.
Previous posting: A: pathogenicity predictors of cancer mutations
Kevin
Thank you, Kevin Blighe. So now I can choose randomly any tool from each category in this list or should the choice be based on any criteria for best tools?
what tools would you recommend to asses the effect of variants on ligand binding ?Schrodinger maestro seems good but it's a paid software.
Sounds more like quantum chemistry ... ? Take a look at Spartan molecular modelling, although, you will require a powerful computer to accurately predict the effects. Could also look at the link that I posted under Protein modelling (from amino acid sequence)
Log in to answer this question.