Concepedia

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

Melissa Lee, Patrick Roos, Neeraj Sharma, Melis Atalar, Taylor A. Evans, Matthew J. Pellicore, Emily F. Davis-Marcisak, Anh-Thu N. Lam, Susan E. Stanley, Sara E. Khalil,

The American Journal of Human Genetics · 2017 · 79 citations · 37 references

DOIFull text

Open access

Concepts

References

37

Scikit-learn: Machine Learning in Python

Fabián Pedregosa, Gaël Varoquaux, Alexandre Gramfort et al. · arXiv (Cornell University) · 2012 · 63.7K citations · Full text

, , +10

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Activating Mutations in the Epidermal Growth Factor Receptor Underlying Responsiveness of Non–Small-Cell Lung Cancer to Gefitinib

Thomas J. Lynch, Daphne W. Bell, Raffaella Sordella et al. · New England Journal of Medicine · 2004 · 11.5K citations

, , +16

The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text

, , +17

Improved Splice Site Detection in Genie

Martin G. Reese, Frank H. Eeckman, David Kulp et al. · Journal of Computational Biology · 1997 · 1.6K citations

, , +10