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arXiv 2022年

作者： Callahan, Tiffany J. Stefanski, Adrianne L. Wyrwa, Jordan M. Zeng, Chenjie Ostropolets, Anna Banda, Juan M. Baumgartner, William A. Boyce, Richard D. Casiraghi, Elena Coleman, Ben D. Collins, Janine H. Deakyne-Davies, Sara J. Feinstein, James A. Haendel, Melissa A. Lin, Asiyah Y. Martin, Blake Matentzoglu, Nicolas A. Meeker, Daniella Reese, Justin Sinclair, Jessica Taneja, Sanya B. Trinkley, Katy E. Vasilevsky, Nicole A. Williams, Andrew Zhang, Xingman A. Denny, Joshua C. Robinson, Peter N. Ryan, Patrick Hripcsak, George Bennett, Tellen D. Hunter, Lawrence E. Kahn, Michael G. Computational Bioscience Program University of Colorado Anschutz Medical Campus AuroraCO80045 United States Department of Biomedical Informatics Columbia University Irving Medical Center New YorkNY10032 United States Department of Physical Medicine and Rehabilitation School of Medicine University of Colorado Anschutz Medical Campus AuroraCO80045 United States National Human Genome Research Institute National Institutes of Health BethesdaMD20892 United States Department of Computer Science Georgia State University AtlantaGA30303 United States Department of Biomedical Informatics University of Pittsburgh School of Medicine PittsburghPA15260 United States Computer Science Università degli Studi di Milano Milan20122 Italy Division of Environmental Genomics and Systems Biology Lawrence Berkeley National Laboratory BerkeleyCA94720 United States The Jackson Laboratory for Genomic Medicine FarmingtonCT06032 United States Department of Haematology University of Cambridge Cambridge United Kingdom Department of Research Informatics & Data Science Analytics Resource Center Children’s Hospital Colorado AuroraCO80045 United States University of Colorado Anschutz School of Medicine AuroraCO80045 United States Center for Health AI University of Colorado Anschutz Medical Campus AuroraCO80045 United States Departments of Biomedical Informatics and Pediatrics University of Colorado School of Medicine AuroraCO80045 United States Semanticly Athens Greece Yale School of Medicine New HavenCT06510 United States HealthLinc ValparaisoIN46383 United States Intelligent Systems Program University of Pittsburgh PittsburghPA15260 United States Department of Family Medicine University of Colorado Anschutz School of Medicine AuroraCO80045 United States Translational and Integrative Sciences Lab University of Colorado Anschutz Medical Campus AuroraCO80045 United States Tufts Institute for Clinical Research and Health Policy Studies Tufts University Bos

Background: Common data models solve many challenges of standardizing electronic health record (EHR) data, but are unable to semantically integrate all the resources needed for deep phenotyping. Open Biological and Biomedical Ontology (OBO) Foundry ontologies provide computable representations of biological knowledge and enable the integration of heterogeneous data. However, mapping EHR data to OBO ontologies requires significant manual curation and domain expertise. Objective: We introduce OMOP2OBO, an algorithm for mapping Observational Medical Outcomes Partnership (OMOP) vocabularies to OBO ontologies. Results: Using OMOP2OBO, we produced mappings for 92,367 conditions, 8611 drug ingredients, and 10,673 measurement results, which covered 68-99% of concepts used in clinical practice when examined across 24 hospitals. When used to phenotype rare disease patients, the mappings helped systematically identify undiagnosed patients who might benefit from genetic testing. Conclusions: By aligning OMOP vocabularies to OBO ontologies our algorithm presents new opportunities to advance EHR-based deep phenotyping. © 2022, CC BY.

关键词： Ontology

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Author Correction: A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing

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Nature communications 2022年第1期13卷 2828页

作者： Sanju Sinha Karina Barbosa Kuoyuan Cheng Mark D M Leiserson Prashant Jain Anagha Deshpande David M Wilson Bríd M Ryan Ji Luo Ze'ev A Ronai Joo Sang Lee Aniruddha J Deshpande Eytan Ruppin Cancer Data Science Laboratory Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20892 USA. Laboratory of Human Carcinogenesis Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20850 USA. Center for Bioinformatics and Computational Biology University of Maryland College Park MD 20742 USA. Tumor Initiation Program Cancer Center Sanford Burnham Prebys Medical Discovery Institute La Jolla CA 92037 USA. Laboratory of Molecular Gerontology National Institute on Aging Intramural Research Program National Institutes of Health Baltimore MD 21224 USA. Laboratory of Cancer Biology and Genetics Center for Cancer Research National Cancer Institute National Institute of Health Bethesda MD 20850 USA. Samsung Medical Center Sungkyunkwan University School of Medicine Suwon 16419 Republic of Korea. Department of Precision Medicine School of Medicine and Department of Artificial Intelligence Sungkyunkwan University Suwon 16419 Republic of Korea. Tumor Initiation Program Cancer Center Sanford Burnham Prebys Medical Discovery Institute La Jolla CA 92037 USA. adeshpande@***. Cancer Data Science Laboratory Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20892 USA. eytan.ruppin@nih.gov.

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Genome-wide association study of long COVID

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Nature Genetics 2025年 1-16页

作者： Vilma Lammi Tomoko Nakanishi Samuel E. Jones Juha Karjalainen Martin Broberg Hele H. Haapaniemi Matti Pirinen Mari E. K. Niemi Mattia Cordioli Mark J. Daly Andrea Ganna Hanna M. Ollila J. Brent Richards Yukinori Okada Shea J. Andrews Beatriz Cortés Rafael de Cid Susana Iraola-Guzmán Natalia Blay Xavier Farré Heath E. O’Brien Thompson Hannah Patrick J. Short Ana Ochoa-Guzman Michelle Duran-Gomez Brian E. Fulton-Howard Masahiro Kanai Axel Schmidt Daniella Balla Julia Heggemann Sonja Schultz Pari Behzad Markus M. Nöthen Abigail Miller Kerstin U. Ludwig Ruth E. Mitchell George Davey Smith Nicholas J. Timpson Abdou Mousas Evangelos Evangelou Evangelia Ntzani Konstantinos K. Tsilidis Massimo Mangino Alicia Huerta-Chagoya Nasa Sinnott-Armstrong Elizabeth T. Cirulli Francisco Tanudjaja Efren Sandoval Nicole L. Washington Simon White Alexandre Bolze Kelly M. Schiabor Barrett Marc Vaudel Alex S. F. Kwong Amit K. Maiti Minttu M. Marttila Daniel C. Posner Alexis A. Rodriguez Chiara Batini Beatriz Guillen-Guio Olivia C. Leavy Anna L. Guyatt Catherine John Louise V. Wain Francesca Minnai Anna R. Dearman Benedict Hignell Meena Kumari C. A. Robert Warmerdam Lude H. Franke Celia B. Sequeros Søren Brunak David Westergaard Karina Banasik Thomas W. Winkler Iris M. Heid Daniel M. Jordan Ryan C. Thompson Alexander W. Charney Laura G. Sloofman Nicole W. Simons Noam D. Beckmann Raimonds Rešcenko Vita Rovite Peculis Raitis Monta Briviba Janis Klovinš Laura Ansone Lorenzo Miano Flora Peyvandi Francesco Malvestiti Nicola Montano Alessandra Bandera Francesco Bruno Arturo Blasi Jacqueline M. Lane Jakob M. Cherry Ryan K. Chung Laura Carvajal-Silva Kevin Aguilar-Valdés Leslie C. Cerpa Tamara V. Arévalo Eduardo Lamoza Alicia Colombo Ricardo A. Verdugo Erika Frangione Xu Xinyi Jennifer Taher Jordan Lerner-Ellis Lindsay Guare Shefali S. Verma Ekaterina Vergasova Michil Trofimov Layal Shaheen Nikolay Plotnikov Anna Kim Dmitrii Kharitonov Alexei Kamelin Alexander Rakitko Eirini Marouli Pasquale Striano Ummu Afeera Zainulabid Ashutosh Kumar Hajar Fa Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Department of Human Genetics McGill University Montreal Quebec Canada Centre for Clinical Epidemiology Department of Medicine Lady Davis Institute Jewish General Hospital McGill University Montreal Quebec Canada Kyoto-McGill International Collaborative Program in Genomic Medicine Graduate School of Medicine Kyoto University Kyoto Japan Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan Research Fellow Japan Society for the Promotion of Science Tokyo Japan Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Mathematics and Statistics University of Helsinki Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Broad Institute Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Anesthesia Critical Care and Pain Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Twin Research King’s College London London UK 5 Prime Sciences Inc Montreal Quebec Canada Department of Epidemiology Biostatistics and Occupational Health McGill University Montreal Quebec Canada Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Departmen

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association ofFOXP4with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4’s role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID.

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Assessing the Potential of GPT-4 to Annotate Medical Notes Across Different Languages and Countries: A Model Evaluation Study

SSRN

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SSRN 2024年

作者： Saad Menezes, Maria Clara Hoffman, Alexander F. Tan, Amelia L.M. Nalbandyan, Mariné Omenn, Gilbert S. Mazzotti, Diego R. Hernández-Arango, Alejandro Visweswaran, Shyam Venkatesh, Shruthi Mandl, Kenneth D. Bourgeois, Florence T. Lee, James W.K. Makmur, Andrew Hanauer, David A. Semanik, Michael G. Kerivan, Lauren T. Hill, Terra Forero, Julian Restrepo Castro, Carlos Andrés C.R. Vigna, Matteo Ceriana, Piero Abu-El-rub, Noor Avillach, Paul Bellazzi, Riccardo Callaci, Thomas Gutiérrez-Sacristán, Alba Malovini, Alberto Mathew, Jomol P. Morris, Michele Murthy, Venkatesh Parimbelli, Enea Patel, Lav P. Sáez, Carlos Samayamuthu, Malarkodi Jebathilagam Thompson, Jeffrey A. Tibollo, Valentina Xia, Zongqi Kohane, Isaac S. Harvard Medical School Department of Biomedical Informatics 10 Shattuck Street BostonMA02115 United States School of Medicine and Public Health University of Wisconsin-Madison Office of Informatics and Information Technology 750 Highland Ave MadisonWI53705 United States University of Michigan Department of Computational Medicine & Bioinformatics Internal Medicine Human Genetics Environmental Health 100 Washtenaw Avenue Ann ArborMI48109 United States University of Kansas Medical Center Division of Medical Informatics Division of Pulmonary Critical Care and Sleep Medicine Department of Internal Medicine 3901 Rainbow Blvd Kansas CityKS66160 United States University of Antioquia Hospital Alma Máter de Antioquia Department of Internal Medicine Calle 64 N°51 D - 154 Medellín Colombia University of Pittsburgh Department of Biomedical Informatics 5607 Baum Blvd PittsburghPA15206 United States University of Pittsburgh Department of Neurology 3501 5th Avenue PittsburghPA15206 United States Boston Children's Hospital Computational Health Informatics Program 300 Longwood Avenue BostonMA02115 United States Boston Children's Hospital Department of Pediatrics 300 Longwood Avenue BostonMA02115 United States National University Health System Department of Surgery 1E Kent Ridge Rd Singapore119228 Singapore National University Health System Department of Diagnostic Imaging 1E Kent Ridge Rd Singapore119228 Singapore University of Michigan Department of Learning Health Sciences NCRC 100 2800 Plymouth Road Ann ArborMI48109 United States University of Kansas Medical Center Department of Surgery 3901 Rainbow Blvd Kansas CityKS66160 United States Istituti Clinici Scientifici Maugeri IRCCS Respiratory rehabilitation unit Via Maugeri 10 Pavia27100 Italy University of Kansas Medical Center 3901 Rainbow Blvd Kansas CityKS66160 United States University of Pavia Department of Electrical Computer and Biomedical Engineering via Ferrata 5 Pavia2710

Background: Physicians invest hours creating patient notes, which are rich in information but difficult for computers to analyze due to their unstructured format. GPT-4 reshaped our ability to process text, yet it is unknown how well this model can handle medical notes. This project aims to compare GPT-4’s ability to annotate medical notes against experienced physicians across three different languages at multiple institutions and countries. Methods: This study included eight sites from four countries - the United States, Colombia, Singapore, and Italy. Each site contributed seven de-identified notes (admission, progress, or consult) from hospitalized patients. GPT-4 assessed each note by answering 14 questions, including demographic information, clinical judgments, data quality, and patients’ eligibility for a hypothetical study enrollment. For validation, two physicians from each site independently evaluated GPT-4's responses. Findings: Overall, 56 medical notes, written in English, Italian, and Spanish, were analyzed. A total of 784 responses from GPT-4 were generated. Both physicians agreed with GPT-4’s response 79% of the time (622/784, 95%CI 76-82%). Only one of the two physicians agreed with GPT-4’s response 10% of the time (82/784, 95%CI 8-13%). Neither physician agreed with GPT-4’s response 10% of the time (80/784, 95%CI 8-13%). Both physicians agreed with GPT-4 more often in notes written in Spanish and Italian than in English, with agreement rates of 88% (86/98, 95%CI 79-93%), 84% (82/98, 95%CI 75-90%), and 77% (454/588, 95%CI 74-80%), respectively. Hallucinations were rare (10/784, 95%CI 0-2%). GPT-4 correctly selected patients for a hypothetical study enrollment based on three criteria 90% of the time (95%CI 81-98%). Interpretation: The findings indicate that GPT-4 annotations demonstrated a high agreement rate with physicians across all languages. We also demonstrate GPT-4's potential to assist in patient selection for studies. Funding: None. Declarati

关键词： Medical computing

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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Nature Communications 2025年第1期16卷 1-18页

作者： Maria Zanti Denise G. O’Mahony Kristia Yiangou Kyriaki Michailidou Michael T. Parsons Amanda B. Spurdle Leila Dorling Joe Dennis Marc Naven Antonis C. Antoniou Manjeet K. Bolla Qin Wang Douglas F. Easton Nicholas J. Boddicker Wenan Chen Chunling Hu Steven N. Hart Fergus J. Couch Thomas U. Ahearn Jonine D. Figueroa Montserrat García-Closas Christine B. Ambrosone Song Yao Irene L. Andrulis Gord Glendon Paul L. Auer Caroline Baynes Don M. Conroy Alison M. Dunning Craig Luccarini Clara Bodelon James M. Hodge Alpa V. Patel Lauren R. Teras Natalia V. Bogdanova Stig E. Bojesen Kristen D. Brantley Nicola J. Camp Archie Campbell Jose E. Castelao Melissa H. Cessna Jenny Chang-Claude Fei Chen Christopher A. Haiman Georgia Chenevix-Trench Kamila Czene Arcangela De Nicolo Susan M. Domchek Katherine L. Nathanson Thilo Dörk A. Heather Eliassen D. Gareth Evans Peter A. Fasching Henrik Flyger Manuela Gago-Dominguez Anna González-Neira Rocio Nuñez-Torres Felix Grassmann Andreas Hadjisavvas Mihalis I. Panayiotidis Ute Hamann Muhammad U. Rashid Diana Torres Mikael B. A. Hartman Weang-Kee Ho Reiner Hoppe Sacha J. Howell Anna Jakubowska Elza K. Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N. Kristensen James V. Lacey Jingmei Li Geok Hoon Lim Veronique Kiak-Mien Tan Sara Lindström Artitaya Lophatananon Kenneth Muir Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L. Milne Melissa C. Southey Nadia Obi Janet E. Olson Celine M. Vachon Julie R. Palmer Gary R. Zirpoli Paul D. P. Pharoah Eric C. Polley Kathryn J. Ruddy Siddhartha Yadav Emmanouil Saloustros Elinor J. Sawyer Marjanka K. Schmidt Soo Hwang Teo Amy Trentham-Dietz Thérèse Truong Jeffrey N. Weitzel Melissa S. Cline Peter Devilee Sean V. Tavtigian David E. Goldgar Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus Department of Medical Genetics Oslo University Hospital Oslo Norway Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA Usher Institute of Population Health Sciences and Informatics The University of Edinburgh Edinburgh UK Cancer Research UK Edinburgh Centre The University of Edinburgh Edinburgh UK Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA Department of Population Science American Cancer Society Atlanta GA USA Radiation Oncology Research Unit Hannover Medical School Hannover Germany Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Internal Medicine and Hu

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data ofBRCA1andBRCA2from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207BRCA1andBRCA2variants, with 6909 being coding, covering 23.4% ofBRCA1andBRCA2VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity forBRCA1and 93.3% sensitivity and 86.6% specificity forBRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

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Quantum computing at the frontiers of biological sciences

arXiv

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arXiv 2019年

作者： Emani, Prashant S. Warrell, Jonathan Anticevic, Alan Bekiranov, Stefan Gandal, Michael McConnell, Michael J. Sapiro, Guillermo Aspuru-Guzik, Alán Baker, Justin Bastiani, Matteo McClure, Patrick Murray, John Sotiropoulos, Stamatios N. Taylor, Jacob Senthil, Geetha Lehner, Thomas Gerstein, Mark B. Harrow, Aram W. Program in Computational Biology and Bioinformatics Yale University New HavenCT06520 United States Department of Molecular Biophysics and Biochemistry Yale University New HavenCT06520 United States Yale School of Medicine Department of Psychiatry New HavenCT06511 United States University of Virginia School of Medicine Department of Biochemistry and Molecular Genetics CharlottesvilleVA22903 United States Department of Psychiatry Semel Institute David Geffen School of Medicine University of California–Los Angeles 695 Charles E. Young Drive South Los AngelesCA90095 United States Univ. of Virginia School of Medicine Department of Neuroscience CharlottesvilleVA22903 United States Department of Electrical and Computer Engineering Duke University DurhamNC27708 United States Department of Chemistry University of Toronto 80 St. George Street TorontoONM5S 3H6 Canada TorontoONM5S 1M1 Canada CIFAR Artificial Intelligence Research Chair Vector Institute TorontoONM5S 1M1 Canada Department of Computer Science University of Toronto 40 St. George Street TorontoONM5S 2E4 Canada Schizophrenia and Bipolar Disorder Program McLean Hospital BelmontMA02478 United States Department of Psychiatry Harvard Medical School BostonMA02114 United States Sir Peter Mansfield Imaging Centre School of Medicine University of Nottingham NottinghamNG7 2RD United Kingdom Machine Learning Team National Institute of Mental Health BethesdaMD20892 United States Section on Functional Imaging Methods National Institute of Mental Health BethesdaMD20892 United States Department of Psychiatry Yale University School of Medicine New HavenCT06511 United States Department of Physics Yale University New HavenCT06511 United States Joint Center for Quantum Information and Computer Science University of Maryland College ParkMD20742 United States National Institute of Standards and Technology GaithersburgMD20899 United States Office of Genomics Research Coordination N

The search for meaningful structure in biological data has relied on cutting-edge advances in computational technology and data science methods. However, challenges arise as we push the limits of scale and complexity in biological problems. Innovation in massively parallel, classical computing hardware and algorithms continues to address many of these challenges, but there is a need to simultaneously consider new paradigms to circumvent current barriers to processing speed. Accordingly, we articulate a view towards quantum computation and quantum information science, where algorithms have demonstrated potential polynomial and exponential computational speedups in certain applications, such as machine learning. The maturation of the field of quantum computing, in hardware and algorithm development, also coincides with the growth of several collaborative efforts to address questions across length and time scales, and scientific disciplines. We use this coincidence to explore the potential for quantum computing to aid in one such endeavor: the merging of insights from genetics, genomics, neuroimaging and behavioral phenotyping. By examining joint opportunities for computational innovation across fields, we highlight the need for a common language between biological data analysis and quantum computing. Ultimately, we consider current and future prospects for the employment of quantum computing algorithms in the biological sciences. Copyright © 2019, The Authors. All rights reserved.

关键词： Machine learning

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A light in the dark: searching for electromagnetic counterparts to black hole-black hole mergers in LIGO/Virgo O3 with the Zwicky Transient Facility

arXiv

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arXiv 2022年

作者： Graham, Matthew J. McKernan, Barry Ford, K.E. Saavik Stern, Daniel Djorgovski, S.G. Coughlin, Michael Burdge, Kevin B. Bellm, Eric C. Helou, George Mahabal, Ashish A. Masci, Frank J. Purdum, Josiah Rosnet, Philippe Rusholme, Ben California Institute of Technology 1200 E. California Blvd PasadenaCA91125 United States Department of Science CUNY Borough of Manhattan Community College 199 Chambers Street New YorkNY10007 United States Department of Astrophysics American Museum of Natural History Central Park West New YorkNY10028 United States Physics Program CUNY Graduate Center 365 5th Avenue New YorkNY10016 United States Center for Computational Astrophysics Flatiron Institute New YorkNY10010 United States Jet Propulsion Laboratory California Institute of Technology 4800 Oak Grove Drive PasadenaCA91109 United States School of Physics and Astronomy University of Minnesota MinneapolisMN55455 United States Department of Physics Massachusetts Institute of Technology CambridgeMA02139 United States Kavli Institute for Astrophysics and Space Research Massachusetts Institute of Technology CambridgeMA02139 United States DIRAC Institute Department of Astronomy University of Washington 3910 15th Avenue NE SeattleWA98195 United States IPAC California Institute of Technology 1200 E. California Blvd PasadenaCA91125 United States Division of Physics Mathematics and Astronomy California Institute of Technology PasadenaCA91125 United States Center for Data Driven Discovery California Institute of Technology PasadenaCA91125 United States Caltech Optical Observatories California Institute of Technology PasadenaCA91125 United States Université Clermont Auvergne CNRS IN2P3 LPC Clermont-FerrandF-63000 France

The accretion disks of active galactic nuclei (AGN) are promising locations for the merger of compact objects detected by gravitational wave (GW) observatories. Embedded within a baryon-rich, high density environment, mergers within AGN are the only GW channel where an electromagnetic (EM) counterpart must occur (whether detectable or not). Considering AGN with unusual flaring activity observed by the Zwicky Transient Facility (ZTF), we describe a search for candidate EM counterparts to binary black hole (BBH) mergers detected by LIGO/Virgo in O3. After removing probable false positives, we find nine candidate counterparts to BBH mergers during O3 (seven in O3a, two in O3b) with a p-value of 0.0019. Based on ZTF sky coverage, AGN geometry, and merger geometry, we expect ≈ 3(NBBH/83)(fAGN/0.5) potentially detectable EM counterparts from O3, where NBBH is the total number of observed BBH mergers and fAGN is the fraction originating in AGN. Further modeling of breakout and flaring phenomena in AGN disks is required to reduce our false positive rate. Two of the events are also associated with mergers with total masses > 100M☉, which is the expected rate for O3 if hierarchical (large mass) mergers occur in the AGN channel. Candidate EM counterparts in future GW observing runs can be better constrained by coverage of the Southern sky as well as spectral monitoring of unusual AGN flaring events in LIGO/Virgo alert volumes. A future set of reliable AGN EM counterparts to BBH mergers will yield an independent means of measuring cosmic expansion (H0) as a function of redshift. © 2022, CC BY.

关键词： Gravity waves

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Automatic Extraction of Medication Mentions from Tweets-Overview of the BioCreative VII Shared Task 3 Competition

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database : the journal of biological databases and curation 2023年第2023期2023卷 baac108页

作者： Davy Weissenbacher Karen O'Connor Siddharth Rawal Yu Zhang Richard Tzong-Han Tsai Timothy Miller Dongfang Xu Carol Anderson Bo Liu Qing Han Jinfeng Zhang Igor Kulev Berkay Köprü Raul Rodriguez-Esteban Elif Ozkirimli Ammer Ayach Roland Roller Stephen Piccolo Peijin Han V G Vinod Vydiswaran Ramya Tekumalla Juan M Banda Parsa Bagherzadeh Sabine Bergler João F Silva Tiago Almeida Paloma Martinez Renzo Rivera-Zavala Chen-Kai Wang Hong-Jie Dai Luis Alberto Robles Hernandez Graciela Gonzalez-Hernandez Department of Computational Biomedicine Cedars-Sinai Medical Center Los Angeles CA USA. DBEI The Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Department of Computer Science and Information Engineering National Central University No. 300 Zhongda Rd Zhongli District Taoyuan 320 Taiwan. IoX Center National Taiwan University Da'an District Section 4 Roosevelt Rd No. 1 Barry Lam Hall Taipei 106 Taiwan. Research Center for Humanities and Social Sciences Academia Sinica No. 128 Section 2 Academia Rd Nangang District Taipei 115 Taiwan. Computational Health Informatics Program Boston Children's Hospital Boston MA USA. Department of Pediatrics Harvard Medical School Boston MA USA. NVIDIA Santa Clara CA USA. Department of Statistics Florida State University Tallahassee FL USA. Data and Analytics Chapter F. Hoffmann-La Roche Ltd Switzerland. Pharmaceutical Research and Early Development Roche Innovation Center Basel Switzerland. Speech and Language Technology Lab DFKI Berlin Germany. Department of Biology Brigham Young University Provo UT USA. Department of Computational Medicine and Bioinformatics Medical School University of Michigan Ann Arbor MI USA. Department of Learning Health Sciences Medical School University of Michigan Ann Arbor MI USA. School of Information University of Michigan Ann Arbor MI USA. Department of Computer Science Georgia State University Atlanta GA USA. CLaC Labs Concordia University Montreal Canada. DETI Institute of Electronics and Informatics Engineering of Aveiro University of Aveiro Portugal. Department of Computation University of A Coruña Spain. Computer Science and Engineering Department Universidad Carlos III de Madrid Madrid Spain. Big Data Laboratory Chunghwa Telecom Laboratories Taoyuan Taiwan. Department of Computer Science National Yang Ming Chiao Tung University Hsinchu Taiwan. Department of Electrical Engineering College of Electrical Engineering and Computer Sci

This study presents the outcomes of the shared task competition BioCreative VII (Task 3) focusing on the extraction of medication names from a Twitter user's publicly available tweets (the user's 'timeline'). In general, detecting health-related tweets is notoriously challenging for natural language processing tools. The main challenge, aside from the informality of the language used, is that people tweet about any and all topics, and most of their tweets are not related to health. Thus, finding those tweets in a user's timeline that mention specific health-related concepts such as medications requires addressing extreme imbalance. Task 3 called for detecting tweets in a user's timeline that mentions a medication name and, for each detected mention, extracting its span. The organizers made available a corpus consisting of 182 049 tweets publicly posted by 212 Twitter users with all medication mentions manually annotated. The corpus exhibits the natural distribution of positive tweets, with only 442 tweets (0.2%) mentioning a medication. This task was an opportunity for participants to evaluate methods that are robust to class imbalance beyond the simple lexical match. A total of 65 teams registered, and 16 teams submitted a system run. This study summarizes the corpus created by the organizers and the approaches taken by the participating teams for this challenge. The corpus is freely available at https://***/tasks/biocreative-vii/track-3/. The methods and the results of the competing systems are analyzed with a focus on the approaches taken for learning from class-imbalanced data.

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FUTURE-AI: International consensus guideline for trustworthy and deployable artificial intelligence in healthcare

arXiv

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arXiv 2023年

作者： Lekadir, Karim Feragen, Aasa Fofanah, Abdul Joseph Frangi, Alejandro F. Buyx, Alena Emelie, Anais Lara, Andrea Porras, Antonio R. Chan, An-Wen Navarro, Arcadi Glocker, Ben Botwe, Benard O. Khanal, Bishesh Beger, Brigit Wu, Carol C. Cintas, Celia Langlotz, Curtis P. Rueckert, Daniel Mzurikwao, Deogratias Fotiadis, Dimitrios I. Zhussupov, Doszhan Ferrante, Enzo Meijering, Erik Weicken, Eva González, Fabio A. Asselbergs, Folkert W. Prior, Fred Krestin, Gabriel P. Collins, Gary S. Tegenaw, Geletaw S. Kaissis, Georgios Misuraca, Gianluca Tsakou, Gianna Dwivedi, Girish Kondylakis, Haridimos Jayakody, Harsha Woodruf, Henry C. Mayer, Horst Joachim Aerts, Hugo JWL Walsh, Ian Chouvarda, Ioanna Buvat, Irène Tributsch, Isabell Rekik, Islem Duncan, James Kalpathy-Cramer, Jayashree Zahir, Jihad Park, Jinah Mongan, John Gichoya, Judy W. Schnabel, Julia A. Kushibar, Kaisar Riklund, Katrine Mori, Kensaku Marias, Kostas Amugongo, Lameck M. Fromont, Lauren A. Maier-Hein, Lena Alberich, Leonor Cerdá Rittner, Leticia Phiri, Lighton Marrakchi-Kacem, Linda Donoso-Bach, Lluís Martí-Bonmatí, Luis Cardoso, M. Jorge Bobowicz, Maciej Shabani, Mahsa Tsiknakis, Manolis Zuluaga, Maria A. Bielikova, Maria Fritzsche, Marie-Christine Camacho, Marina Linguraru, Marius George Wenzel, Markus De Bruijne, Marleen Tolsgaard, Martin G. Ghassemi, Marzyeh Ashrafuzzaman, Md Goisauf, Melanie Yaqub, Mohammad Abadía, Mónica Cano Mahmoud, Mukhtar M.E. Elattar, Mustafa Rieke, Nicola Papanikolaou, Nikolaos Lazrak, Noussair Díaz, Oliver Salvado, Olivier Pujol, Oriol Sall, Ousmane Guevara, Pamela Gordebeke, Peter Lambin, Philippe Brown, Pieta Abolmaesumi, Purang Dou, Qi Lu, Qinghua Osuala, Richard Nakasi, Rose Zhou, S. Kevin Napel, Sandy Colantonio, Sara Albarqouni, Shadi Joshi, Smriti Carter, Stacy Klein, Stefan Petersen, Steffen E. Aussó, Susanna Awate, Suyash Raviv, Tammy Riklin Cook, Tessa Mutsvangwa, Tinashe E.M. Rogers, Wendy A. Niessen, Wiro J. Puig-Bosch, Xènia Zeng, Yi Mohammed, Yunusa G. Aquino, Yves Saint James Salahuddin, Zohaib Starmans, Martijn P.A. Department de Matemàtiques i Informàtica Universitat de Barcelona Barcelona Spain Barcelona Spain DTU Compute Technical University of Denmark Kgs Lyngby Denmark Department of Mathematics and Computer Science Faculty of Science and Technology Milton Margai Technical University Freetown Sierra Leone Center for Computational Imaging & Simulation Technologies in Biomedicine Schools of Computing and Medicine University of Leeds Leeds United Kingdom Cardiovascular Science and Electronic Engineering Departments KU Leuven Leuven Belgium Institute of History and Ethics in Medicine Technical University of Munich Munich Germany Faculty of Engineering of Systems Informatics and Sciences of Computing Galileo University Guatemala City Guatemala Department of Biostatistics and Informatics Colorado School of Public Health University of Colorado Anschutz Medical Campus AuroraCO United States Department of Medicine Women’s College Research Institute University of Toronto Toronto Canada Universitat Pompeu Fabra BarcelonaBeta Brain Research Center Barcelona Spain Department of Computing Imperial College London London United Kingdom School of Biomedical & Allied Health Sciences University of Ghana Accra Ghana Department of Midwifery & Radiography School of Health & Psychological Sciences City University of London United Kingdom Kathmandu Nepal European Heart Network Brussels Belgium Department of Thoracic Imaging University of Texas MD Anderson Cancer Center Houston United States IBM Research Africa Nairobi Kenya Departments of Radiology Medicine and Biomedical Data Science Stanford University School of Medicine Stanford United States Institute for AI and Informatics in Medicine Klinikum rechts der Isar Technical University Munich Munich Germany Department of Computing Imperial College London London United Kingdom Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania United Republic of Ioannina Greece Almaty AI Lab Almaty Kazakhstan

Background: Despite major advances in artificial intelligence (AI) research for healthcare, the deployment and adoption of AI technologies remain limited in clinical practice. In recent years, concerns have been raised about the clinical, technical, ethical and legal risks associated with healthcare AI. To increase adoption in the real world, it is essential that AI technologies are trusted and accepted by patients, clinicians, health organisations and authorities. This paper describes the FUTURE-AI framework as the first international consensus guideline for trustworthy AI in healthcare. Methods: The FUTURE-AI consortium was founded in 2021 and now comprises 117 interdisciplinary experts from 50 countries representing all continents, including AI scientists, clinical researchers, biomedical ethicists, and social scientists. Over a two-year period, the consortium established guiding principles and best practices for trustworthy and deployable AI through an iterative process comprising an in-depth literature review, a modified Delphi survey, and online consensus meetings. Findings: The FUTURE-AI framework was established based on six guiding principles for trustworthy AI in healthcare, i.e. Fairness, Universality, Traceability, Usability, Robustness and Explainability. Through consensus, a set of 30 best practices were defined, addressing technical, clinical, socio-ethical and legal dimensions of trustworthy AI. The recommendations cover the entire lifecycle of healthcare AI, from design, development and validation to regulation, deployment, and monitoring. Interpretation: FUTURE-AI is a structured, risk-informed framework which provides guidance for constructing healthcare AI tools that will be trusted, deployed and adopted in real-world clinical practice. Researchers are encouraged to take the recommendations into account in proof-of-concept stages to facilitate future translation towards clinical practice of healthcare AI. Copyright © 2023, The Authors. All rights

关键词： Clinical research

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494P Evaluation of transcriptome forward computational strategies to improve molecular diagnosis in rare pediatric neuromuscular disease

引用

Neuromuscular Disorders 2024年 43卷 104441.331-104441.331页

作者： Silverstein, S. Ganapathy, K. Donkervoort, S. Moy, J. Uapinyoying, B. Gorokhova, S. Ganesh, V. Weisburd, B. Orbach, R. Foley, A. Mohammadi, P. Adams, D. Bonnemann, C. Neuromuscular and Neurogenetics Disorders of Childhood Section NINDS NIH Bethesda USA Undiagnosed Diseases Program NIH Bethesda USA Rutgers New Jersey Medical School Newark USA Department of Integrative Structural and Computational Biology Scripps Research Institute La Jolla USA Graduate College of Computing and Data Science Boston University Boston USA Center for Genetic Medicine Research Children's Research Institute Children's National Hospital Washington DC USA Aix Marseille Univ INSERM MMG Marseille France Department of Medical Genetics Timone Children's Hospital Marseille France The Broad Institute of MIT and Harvard Boston USA Center for Immunity and Immunotherapies Seattle Children's Research Institute Seattle USA Department of Pediatrics University of Washington School of Medicine Seattle USA Department of Genome Sciences University of Washington Seattle USA

Pediatric neuromuscular diseases are a genetically and clinically heterogenous group of disorders of which 30-60% remain molecularly undiagnosed even after evaluation with exome or genome sequencing. Estimates for added diagnostic benefit of transcriptomic sequencing range between 7-32% across different disease groups. Recently, open-source computational tools designed to systematically survey transcriptomic sequencing data for aberrant events have become available. In this study we assess the sensitivity of DROP (OUTRIDER, FRASER and MAE), MINTIE, LeafcutterMD, and ANEVA-H to detect known outliers in pediatric neuromuscular cohorts in order to identify the optimal set of tools for diagnostic use. Each tool selected utilizes a different statistical strategy and experimental design geared for rare disease. Tools were run on three transcriptome cohorts from the NINDS Neuromuscular and Neurogenetic Diseases of Childhood Section: muscle tissue (n=71), cycloheximide treated fibroblasts (n=79) and untreated fibroblasts (n=37). For splicing tools, MINTIE is the best performing tool (recall rate = 9/21, 42%), followed by FRASER (recall rate = 16/41, 36%), then LeafcutterMD (recall rate = 0/41, 0%). For expression outliers, OUTRIDER detects 6% of true positives (1/15), while the addition of healthy GTEx controls does not improve detection. For monoallelic expression, MAE and ANEVA-H will be compared. Additional evaluations to identify the optimal RNA library preparation methodology for these tools is also in progress. Thus far, OUTRIDER yielded one new candidate diagnosis of TRIP4 related disease. Analysis for new candidate variants is ongoing. Based on these results, and those of ongoing experiments, we will provide recommendations for the use of these tools in diagnostic pipelines for rare pediatric neuromuscular disease.

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