Zobrazeno 1 - 10
of 16
pro vyhledávání: '"James M. Havrilla"'
Autor:
James M. Havrilla, Anbumalar Singaravelu, Dennis M. Driscoll, Leonard Minkovsky, Ingo Helbig, Livija Medne, Kai Wang, Ian Krantz, Bimal R. Desai
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 22, Iss S2, Pp 1-12 (2022)
Abstract Background Clinical phenotype information greatly facilitates genetic diagnostic interpretations pipelines in disease. While post-hoc extraction using natural language processing on unstructured clinical notes continues to improve, there is
Externí odkaz:
https://doaj.org/article/b0546970c04e479ab07099cc93034dd6
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-9 (2021)
Abstract We present PhenCards ( https://phencards.org ), a database and web server intended as a one-stop shop for previously disconnected biomedical knowledge related to human clinical phenotypes. Users can query human phenotype terms or clinical no
Externí odkaz:
https://doaj.org/article/4ced8467f0ff485ea5ab62c9d5403a14
Publikováno v:
Chemistry & Biodiversity. 19
Clinical notes from electronic health records (EHRs) contain a large amount of clinical phenotype data on patients that can provide insights into the phenotypic presentation of various diseases. A number of Natural Language Processing (NLP) algorithm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7ae7907bc1df7747bb08eb2b5395920
https://doi.org/10.1002/cbdv.202200805
https://doi.org/10.1002/cbdv.202200805
Autor:
Jean Monlong, Claude Sinner, Dreycey Albin, Ann M Mc Cartney, Justin N. Vaughn, Arun Subramaniyan, Advait Balaji, Medhat Mahmoud, Moez Dawood, Qiandong Zeng, Eric T. Dawson, Najeeb Syed, Zev N. Kronenberg, Todd J. Treangen, Daniel L Cameron, Timothy Hefferon, Mark Chaisson, Ahmad Al Khleifat, Michael M. Khayat, Hakeem Almabrazi, Moritz Smolka, Fritz J. Sedlazeck, Evan Biederstedt, Alejandro Rafael Gener, Rupesh K. Kesharwani, Ahmed Arslan, James M Havrilla, Arda Soylev, Sagayamary Sagayaradj, Pamella Tater, Christopher Dunn, Fawaz Dabbaghie, Daniela C. Soto, Pankaj Vats, Barry Zorman, Wouter De Coster, Neha Tadimeti, Yunxi Liu, Ben Busby, Tsung-Yu Lu, Gaojianyong Wang, Kimberley Billingsley, Stephen J. Price, Kimberly Walker, Elbay Aliyev, Haowei Du, Daniel Paiva Agustinho, Divya Kalra, Tingting Zhao, Maximillian Marin, Adam C. English, Jingwen Ren, Bryce Kille, Shangzhe Zhang, Sairam Behera, Michael Jochum, Rocio Esteban, Angad Jolly, Nicolae Sapoval, Chunxiao Liao, Joyjit Daw, Chen-Shan Chin
Publikováno v:
F1000Research
In October 2020, 62 scientists from nine nations worked together remotely in the Second Baylor College of Medicine & DNAnexus hackathon, focusing on different related topics on Structural Variation, Pan-genomes, and SARS-CoV-2 related research. The o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::546f5accc41a778026741976126f637d
http://europepmc.org/articles/PMC8479851
http://europepmc.org/articles/PMC8479851
Autor:
Ann M. Mc Cartney, Medhat Mahmoud, Michael Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat, Fawaz Dabbaghie, Rupesh K Kesharwani, Moritz Smolka, Moez Dawood, Dreycey Albin, Elbay Aliyev, Hakeem Almabrazi, Ahmed Arslan, Advait Balaji, Sairam Behera, Kimberley Billingsley, Daniel L Cameron, Joyjit Daw, Eric T. Dawson, Wouter De Coster, Haowei Du, Christopher Dunn, Rocio Esteban, Angad Jolly, Divya Kalra, Chunxiao Liao, Yunxi Liu, Tsung-Yu Lu, James M Havrilla, Michael M Khayat, Maximillian Marin, Jean Monlong, Stephen Price, Alejandro Rafael Gener, Jingwen Ren, Sagayamary Sagayaradj, Nicolae Sapoval, Claude Sinner, Daniela C. Soto, Arda Soylev, Arun Subramaniyan, Najeeb Syed, Neha Tadimeti, Pamella Tater, Pankaj Vats, Justin Vaughn, Kimberly Walker, Gaojianyong Wang, Qiandong Zeng, Shangzhe Zhang, Tingting Zhao, Bryce Kille, Evan Biederstedt, Mark Chaisson, Adam English, Zev Kronenberg, Todd J. Treangen, Timothy Hefferon, Chen-Shan Chin, Ben Busby, Fritz J Sedlazeck
Publikováno v:
F1000Research, Vol 10 (2021)
In October 2020, 62 scientists from nine nations worked together remotely in the Second Baylor College of Medicine & DNAnexus hackathon, focusing on different related topics on Structural Variation, Pan-genomes, and SARS-CoV-2 related research. The o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::7460630860e1b507686cd2b27bd05cef
https://f1000research.com/articles/10-246/v2
https://f1000research.com/articles/10-246/v2
Autor:
Ingo Helbig, Cong Liu, Kai Wang, James M Havrilla, Chunhua Weng, Elizabeth J. Bhoj, Mengge Zhao
Publikováno v:
Genes
Genes, Vol 12, Iss 1159, p 1159 (2021)
Volume 12
Issue 8
Genes, Vol 12, Iss 1159, p 1159 (2021)
Volume 12
Issue 8
Human genetic disorders, such as Down syndrome, have a wide variety of clinical phenotypic presentations, and characterizing each nuanced phenotype and subtype can be difficult. In this study, we examined the electronic health records of 4095 individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f76c2bab213f0835822e8f6b91e6a725
https://pubmed.ncbi.nlm.nih.gov/34440331
https://pubmed.ncbi.nlm.nih.gov/34440331
Autor:
Yunyun Zhou, Kai Wang, Whitney Guthrie, Cong Liu, James M Havrilla, Mengge Zhao, Robert T. Schultz, Chunhua Weng, Jacqueline Peng
Publikováno v:
BMC Medical Informatics and Decision Making
BMC Medical Informatics and Decision Making, Vol 20, Iss S11, Pp 1-9 (2020)
BMC Medical Informatics and Decision Making, Vol 20, Iss S11, Pp 1-9 (2020)
Background Natural language processing (NLP) tools can facilitate the extraction of biomedical concepts from unstructured free texts, such as research articles or clinical notes. The NLP software tools CLAMP, cTAKES, and MetaMap are among the most wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa582d2935144214a12001109ca15fb
https://doi.org/10.1186/s12911-020-01352-2
https://doi.org/10.1186/s12911-020-01352-2
Autor:
Cong Liu, Chunhua Weng, Gholson J. Lyon, Julián Isla, Ying Chen, Pablo Botas, Jacqueline Peng, Mengge Zhao, Chao Wu, Kai Wang, James M Havrilla, Li Fang, Mahdi Sarmady
Publikováno v:
Nar Genomics and Bioinformatics
Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic settings to aid in the characterization of patient phenotypes. The HPO annotation database is updated frequently and can provide detailed phenotype knowledge on various human di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d55f877fdceb4e690860d7a46d923c9a
https://doi.org/10.1093/nargab/lqaa032
https://doi.org/10.1093/nargab/lqaa032
Autor:
Kasper D. Hansen, James M Havrilla, Hans T. Bjornsson, Peter Hickey, Aaron R. Quinlan, Leandros Boukas
Publisher's version (útgefin grein)
Coding variants in epigenetic regulators are emerging as causes of neurological dysfunction and cancer. However, a comprehensive effort to identify disease candidates within the human epigenetic machinery (EM
Coding variants in epigenetic regulators are emerging as causes of neurological dysfunction and cancer. However, a comprehensive effort to identify disease candidates within the human epigenetic machinery (EM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9485a6579c0c5b866a47d78165bb25d4
https://europepmc.org/articles/PMC6442390/
https://europepmc.org/articles/PMC6442390/
Coding variants in genes encoding for epigenetic regulators are an emerging cause of neurological dysfunction and cancer. However, a systematic effort to identify disease candidates within the human epigenetic machinery (EM) has not been performed, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa57326ab2a374ad83ca9315f338e0e