Cell · 2022 · 341 citations · 91 references
GeneticsPharmacogenomicsGenomicsHuman GenomeMedicineBioinformatics
91
Scikit-learn: Machine Learning in Python
Fabián Pedregosa, Gaël Varoquaux, Alexandre Gramfort et al. · arXiv (Cornell University) · 2012 · 63.3K citations · Full text
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 28.9K citations · Full text
A global reference for human genetic variation
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje, Wouter Meuleman, Jason Ernst et al. · Nature · 2015 · 6.9K citations · Full text
Bioinformatics, Chromatin, Genome-wide Association Study +14