GREAT improves functional interpretation of cis-regulatory regions CY McLean, D Bristor, M Hiller, SL Clarke, BT Schaar, CB Lowe, ... Nature biotechnology 28 (5), 495-501, 2010 | 3298 | 2010 |
Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma BE Johnson, T Mazor, C Hong, M Barnes, K Aihara, CY McLean, ... Science 343 (6167), 189-193, 2014 | 1182 | 2014 |
A universal SNP and small-indel variant caller using deep neural networks R Poplin, PC Chang, D Alexander, S Schwartz, T Colthurst, A Ku, ... Nature biotechnology 36 (10), 983-987, 2018 | 538* | 2018 |
Human-specific loss of regulatory DNA and the evolution of human-specific traits CY McLean, PL Reno, AA Pollen, AI Bassan, TD Capellini, C Guenther, ... Nature 471 (7337), 216-219, 2011 | 479 | 2011 |
Quantifying prion disease penetrance using large population control cohorts EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ... Science translational medicine 8 (322), 322ra9-322ra9, 2016 | 283 | 2016 |
Underspecification presents challenges for credibility in modern machine learning A D'Amour, K Heller, D Moldovan, B Adlam, B Alipanahi, A Beutel, ... arXiv preprint arXiv:2011.03395, 2020 | 242 | 2020 |
An open resource for accurately benchmarking small variant and reference calls JM Zook, J McDaniel, ND Olson, J Wagner, H Parikh, H Heaton, SA Irvine, ... Nature biotechnology 37 (5), 561-566, 2019 | 216* | 2019 |
Sequential regulatory activity prediction across chromosomes with convolutional neural networks DR Kelley, YA Reshef, M Bileschi, D Belanger, CY McLean, J Snoek Genome research 28 (5), 739-750, 2018 | 206 | 2018 |
Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study MA Nalls, CY McLean, J Rick, S Eberly, SJ Hutten, K Gwinn, M Sutherland, ... The Lancet Neurology 14 (10), 1002-1009, 2015 | 181* | 2015 |
Dispensability of mammalian DNA C McLean, G Bejerano Genome research 18 (11), 1743-1751, 2008 | 50 | 2008 |
Reducing pervasive false-positive identical-by-descent segments detected by large-scale pedigree analysis EY Durand, N Eriksson, CY McLean Molecular biology and evolution 31 (8), 2212-2222, 2014 | 49 | 2014 |
Improving phenotypic measurements in high-content imaging screens DM Ando, CY McLean, M Berndl BioRxiv, 161422, 2017 | 42 | 2017 |
PRISM offers a comprehensive genomic approach to transcription factor function prediction AM Wenger, SL Clarke, H Guturu, J Chen, BT Schaar, CY McLean, ... Genome research 23 (5), 889-904, 2013 | 40 | 2013 |
Accurate, scalable cohort variant calls using DeepVariant and GLnexus T Yun, H Li, PC Chang, MF Lin, A Carroll, CY McLean Bioinformatics 36 (24), 5582-5589, 2020 | 29 | 2020 |
A deep learning approach to pattern recognition for short DNA sequences A Busia, GE Dahl, C Fannjiang, DH Alexander, E Dorfman, R Poplin, ... BioRxiv, 353474, 2019 | 28 | 2019 |
Machine learning guided aptamer refinement and discovery A Bashir, Q Yang, J Wang, S Hoyer, W Chou, C McLean, G Davis, Q Gong, ... Nature communications 12 (1), 1-11, 2021 | 17 | 2021 |
A penile spine/vibrissa enhancer sequence is missing in modern and extinct humans but is retained in multiple primates with penile spines and sensory vibrissae PL Reno, CY McLean, JE Hines, TD Capellini, G Bejerano, DM Kingsley PLoS One 8 (12), e84258, 2013 | 17 | 2013 |
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease D Lai, B Alipanahi, P Fontanillas, TH Schwantes‐An, J Aasly, RN Alcalay, ... Annals of neurology 90 (1), 76-88, 2021 | 11 | 2021 |
Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology B Alipanahi, F Hormozdiari, B Behsaz, J Cosentino, ZR McCaw, ... The American Journal of Human Genetics 108 (7), 1217-1230, 2021 | 9 | 2021 |
DeepConsensus: Gap-Aware Sequence Transformers for Sequence Correction G Baid, DE Cook, K Shafin, T Yun, F Llinares-Lopez, Q Berthet, ... bioRxiv, 2021 | 5 | 2021 |