References
- Recommendations for clinical interpretation of variants found in non-coding regions of the genome↩︎
- Six lessons for variant interpretation↩︎
- An expanded phenotype centric benchmark of variant prioritization tools↩︎
- A comparison on predicting functional impact of genomic variants↩︎
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria↩︎
- Computational prediction of human deep intronic variation↩︎
- Application Of The ACMG/AMP Framework To Capture Evidence Relevant To Predicted And Observed Impact On Splicing: Recommendations From The ClinGen SVI Splicing Subgroup↩︎
- Benchmarking splice variant prediction algorithms using massively parallel splicing assays↩︎