Cory McLean
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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
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
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
Underspecification presents challenges for credibility in modern machine learning
A D'Amour, K Heller, D Moldovan, B Adlam, B Alipanahi, A Beutel, ...
Journal of Machine Learning Research 23 (226), 1-61, 2022
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
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
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
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
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
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
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
G Baid, DE Cook, K Shafin, T Yun, F Llinares-López, Q Berthet, ...
Nature Biotechnology 41 (2), 232-238, 2023
Improving phenotypic measurements in high-content imaging screens
DM Ando, CY McLean, M Berndl
BioRxiv, 161422, 2017
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), 2366, 2021
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
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, 2018
Dispensability of mammalian DNA
C McLean, G Bejerano
Genome research 18 (11), 1743-1751, 2008
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
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
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
Multimodal llms for health grounded in individual-specific data
A Belyaeva, J Cosentino, F Hormozdiari, K Eswaran, S Shetty, G Corrado, ...
Workshop on Machine Learning for Multimodal Healthcare Data, 86-102, 2023
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