A map of constrained coding regions in the human genome. JM Havrilla, BS Pedersen, RM Layer, AR Quinlan Nature Genetics 51 (1), 88, 2019 | 245 | 2019 |
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases JM Havrilla, M Zhao, L Fang, Y Chen, J Peng, C Liu, C Wu, M Sarmady, ... NAR genomics and bioinformatics 2 (2), lqaa032, 2020 | 61 | 2020 |
Coexpression patterns define epigenetic regulators associated with neurological dysfunction L Boukas, JM Havrilla, PF Hickey, AR Quinlan, HT Bjornsson, KD Hansen Genome research 29 (4), 532-542, 2019 | 44 | 2019 |
SV-plaudit: a cloud-based framework for manually curating thousands of structural variants JR Belyeu, TJ Nicholas, BS Pedersen, TA Sasani, JM Havrilla, SN Kravitz, ... Gigascience 7 (7), giy064, 2018 | 38 | 2018 |
Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder J Peng, M Zhao, J Havrilla, C Liu, C Weng, W Guthrie, R Schultz, K Wang, ... BMC Medical Informatics and Decision Making 20, 1-9, 2020 | 23 | 2020 |
Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records M Zhao, J Havrilla, J Peng, M Drye, M Fecher, W Guthrie, B Tunc, ... Journal of Neurodevelopmental Disorders 14 (1), 32, 2022 | 11 | 2022 |
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care JM Havrilla, A Singaravelu, DM Driscoll, L Minkovsky, I Helbig, L Medne, ... BMC Medical Informatics and Decision Making 22 (Suppl 2), 198, 2022 | 9 | 2022 |
Clinical phenotypic spectrum of 4095 individuals with down syndrome from text mining of electronic health records JM Havrilla, M Zhao, C Liu, C Weng, I Helbig, E Bhoj, K Wang Genes 12 (8), 1159, 2021 | 8 | 2021 |
PhenCards: a data resource linking human phenotype information to biomedical knowledge JM Havrilla, C Liu, X Dong, C Weng, K Wang Genome Medicine 13 (91), 2021 | 5 | 2021 |
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates AM Mc Cartney, M Mahmoud, M Jochum, DP Agustinho, B Zorman, ... F1000Research 10, 2021 | 5 | 2021 |
OARD: Open annotations for rare diseases and their phenotypes based on real-world data C Liu, CN Ta, JM Havrilla, JG Nestor, ME Spotnitz, AS Geneslaw, Y Hu, ... The American Journal of Human Genetics 109 (9), 1591-1604, 2022 | 3 | 2022 |
Meta-analysis of protein structural alignment J Havrilla, A Sacan 2012 IEEE International Conference on Bioinformatics and Biomedicine …, 2012 | 3 | 2012 |
Termviewer–A Web Application for Streamlined Human Phenotype Ontology (HPO) Tagging and Document Annotation A Nixon, L Fang, K Wang, JM Havrilla Chemistry & Biodiversity, e202200805, 2022 | 1 | 2022 |
Revealing Regional Constraint and Assisting Variant Interpretation in the Human Genome JM Havrilla The University of Utah, 2019 | | 2019 |
Pathoscore: a tool for unbiased evaluation of variant pathogenicity scores JM Havrilla, BS Pedersen, RM Layer, EJ Hernandez, M Yandell, ... F1000Research 7, 2018 | | 2018 |