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ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.
Tetsushi Nakao, Alexander G Bick, Margaret A Taub, Seyedeh M Zekavat, Md M Uddin, Abhishek Niroula, Cara L Carty, John Lane, Michael C Honigberg, Joshua S Weinstock, Akhil Pampana, Christopher J Gibson, Gabriel K Griffin, Shoa L Clarke, Romit Bhattacharya, Themistocles L Assimes, Leslie S Emery, Adrienne M Stilp, Quenna Wong, Jai Broome, Cecelia A Laurie, Alyna T Khan, Albert V Smith, Thomas W Blackwell, Veryan Codd, Christopher P Nelson, Zachary T Yoneda, Juan M Peralta, Donald W Bowden, Marguerite R Irvin, Meher Boorgula, Wei Zhao, Lisa R Yanek, Kerri L Wiggins, James E Hixson, C Charles Gu, Gina M Peloso, Dan M Roden, Muagututi'a S Reupena, Chii-Min Hwu, Dawn L DeMeo, Kari E North, Shannon Kelly, Solomon K Musani, Joshua C Bis, Donald M Lloyd-Jones, Jill M Johnsen, Michael Preuss, Russell P Tracy, Patricia A Peyser, Dandi Qiao, Pinkal Desai, Joanne E Curran, Barry I Freedman, Hemant K Tiwari, Sameer Chavan, Jennifer A Smith, Nicholas L Smith, Tanika N Kelly, Bertha Hidalgo, L Adrienne Cupples, Daniel E Weeks, Nicola L Hawley, Ryan L Minster, Lifestyle and Genetic Adaptations Study (OLaGA) Group Samoan Obesity, Ranjan Deka, Take T Naseri, Lisa de Las Fuentes, Laura M Raffield, Alanna C Morrison, Paul S Vries, Christie M Ballantyne, Eimear E Kenny, Stephen S Rich, Eric A Whitsel, Michael H Cho, M Benjamin Shoemaker, Betty S Pace, John Blangero, Nicholette D Palmer, Braxton D Mitchell, Alan R Shuldiner, Kathleen C Barnes, Susan Redline, Sharon LR Kardia, Gonçalo R Abecasis, Lewis C Becker, Susan R Heckbert, Jiang He, Wendy Post, Donna K Arnett, Ramachandran S Vasan, Dawood Darbar, Scott T Weiss, Stephen T McGarvey, Mariza de Andrade, Yii-Der Ida Chen, Robert C Kaplan, Deborah A Meyers, Brian S Custer, Adolfo Correa, Bruce M Psaty, Myriam Fornage, JoAnn E Manson, Eric Boerwinkle, Barbara A Konkle, Ruth JF Loos, Jerome I Rotter, Edwin K Silverman, Charles Kooperberg, John Danesh, Nilesh J Samani, Siddhartha Jaiswal, Peter Libby, Patrick T Ellinor, Nathan Pankratz, Benjamin L Ebert, Alexander P Reiner, Rasika A Mathias, Ron Do, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Pradeep Natarajan
May 09, 2022
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of...
The trans-omics landscape of COVID-19
Peng Wu, Dongsheng Chen, Wencheng Ding, Ping Wu, Hongyan Hou, Yong Bai, Yuwen Zhou, Kezhen Li, Shunian Xiang, Panhong Liu, Jia Ju, Ensong Guo, Jia Liu, Bin Yang, Junpeng Fan, Liang He, Ziyong Sun, Ling Feng, Jian Wang, Tangchun Wu, Hao Wang, Jin Cheng, Hui Xing, Yifan Meng, Yongsheng Li, Yuanliang Zhang, Hongbo Luo, Gang Xie, Xianmei Lan, Ye Tao, Jiafeng Li, Hao Yuan, Kang Huang, Wan Sun, Xiaobo Qian, Zhichao Li, Mingxi Huang, Peiwen Ding, Haoyu Wang, Jiaying Qiu, Feiyue Wang, Shiyou Wang, Jiacheng Zhu, Xiangning Ding, Chaochao Chai, Langchao Liang, Xiaoling Wang, Lihua Luo, Yuzhe Sun, Ying Yang, Zhenkun Zhuang, Tao Li, Lei Tian, Shaoqiao Zhang, Linnan Zhu, Ashley Chang, Lei Chen, Yiquan Wu, Xiaoyan Ma, Fang Chen, Yan Ren, Xun Xu, Siqi Liu, Huanming Yang, Lin Wang, Chaoyang Sun, Ding Ma, Xin Jin, Gang Chen
Jul 28, 2021
Abstract: The outbreak of coronavirus disease 2019 (COVID-19) is a global health emergency. Various omics results have been reported for COVID-19, but the molecular hallmarks of COVID-19, especially in those patients without...
The trans-omics landscape of COVID-19.
Peng Wu, Dongsheng Chen, Wencheng Ding, Ping Wu, Hongyan Hou, Yong Bai, Yuwen Zhou, Kezhen Li, Shunian Xiang, Panhong Liu, Jia Ju, Ensong Guo, Jia Liu, Bin Yang, Junpeng Fan, Liang He, Ziyong Sun, Ling Feng, Jian Wang, Tangchun Wu, Hao Wang, Jin Cheng, Hui Xing, Yifan Meng, Yongsheng Li, Yuanliang Zhang, Hongbo Luo, Gang Xie, Xianmei Lan, Ye Tao, Jiafeng Li, Hao Yuan, Kang Huang, Wan Sun, Xiaobo Qian, Zhichao Li, Mingxi Huang, Peiwen Ding, Haoyu Wang, Jiaying Qiu, Feiyue Wang, Shiyou Wang, Jiacheng Zhu, Xiangning Ding, Chaochao Chai, Langchao Liang, Xiaoling Wang, Lihua Luo, Yuzhe Sun, Ying Yang, Zhenkun Zhuang, Tao Li, Lei Tian, Shaoqiao Zhang, Linnan Zhu, Ashley Chang, Lei Chen, Yiquan Wu, Xiaoyan Ma, Fang Chen, Yan Ren, Xun Xu, Siqi Liu, Jian Wang, Huanming Yang, Lin Wang, Chaoyang Sun, Ding Ma, Xin Jin, Gang Chen
Aug 28, 2021
The outbreak of coronavirus disease 2019 (COVID-19) is a global health emergency. Various omics results have been reported for COVID-19, but the molecular hallmarks of COVID-19, especially in those patients without...
NAVIGATOR
Rita Borgheresi, Andrea Barucci, Sara Colantonio, Gayane Aghakhanyan, Massimiliano Assante, Elena Bertelli, Emanuele Carlini, Roberto Carpi, Claudia Caudai, Diletta Cavallero, Dania Cioni, Roberto Cirillo, Valentina Colcelli, Andrea Dell'Amico, Domnico Di Gangi, Paola Anna Erba, Lorenzo Faggioni, Zeno Falaschi, Michela Gabelloni, Rosa Gini, Lucio Lelii, Pietro Liò, Antonio Lorito, Silvia Lucarini, Paolo Manghi, Francesco Mangiacrapa, Chiara Marzi, Maria Antonietta Mazzei, Laura Mercatelli, Antonella Mirabile, Francesco Mungai, Vittorio Miele, Maristella Olmastroni, Pasquale Pagano, Fabiola Paiar, Giancarlo Panichi, Maria Antonietta Pascali, Filippo Pasquinelli, Jorge Eduardo Shortrede, Lorenzo Tumminello, Luca Volterrani, Emanuele Neri, NAVIGATOR Consortium Group
Dec 09, 2022
NAVIGATOR is an Italian regional project boosting precision medicine in oncology with the aim of making it more predictive, preventive, and personalised by advancing translational research based on quantitative imaging and...
Precision medicine in acute respiratory distress syndrome
Lieuwe DJ Bos, Antonio Artigas, Jean-Michel Constantin, Laura A Hagens, Nanon Heijnen, John G Laffey, Nuala Meyer, Laurent Papazian, Lara Pisani, Marcus J Schultz, Manu Shankar-Hari, Marry R Smit, Charlotte Summers, Lorraine B Ware, Raffaele Scala, Carolyn S Calfee
Nov 20, 2020
Acute respiratory distress syndrome (ARDS) is a devastating critical illness that can be triggered by a wide range of insults and remains associated with a high mortality of around 40%. The search for targeted treatment for ARDS...
NAVIGATOR
Rita Borgheresi, Andrea Barucci, Sara Colantonio, Gayane Aghakhanyan, Massimiliano Assante, Elena Bertelli, Emanuele Carlini, Roberto Carpi, Claudia Caudai, Diletta Cavallero, Dania Cioni, Roberto Cirillo, Valentina Colcelli, Andrea Dell'Amico, Domnico Di Gangi, Paola Anna Erba, Lorenzo Faggioni, Zeno Falaschi, Michela Gabelloni, Rosa Gini, Lucio Lelii, Pietro Liò, Antonio Lorito, Silvia Lucarini, Paolo Manghi, Francesco Mangiacrapa, Chiara Marzi, Maria Antonietta Mazzei, Laura Mercatelli, Antonella Mirabile, Francesco Mungai, Vittorio Miele, Maristella Olmastroni, Pasquale Pagano, Fabiola Paiar, Giancarlo Panichi, Maria Antonietta Pascali, Filippo Pasquinelli, Jorge Eduardo Shortrede, Lorenzo Tumminello, Luca Volterrani, Emanuele Neri, NAVIGATOR Consortium Group
Nov 08, 2022
NAVIGATOR is an Italian regional project boosting precision medicine in oncology with the aim of making it more predictive, preventive, and personalised by advancing translational research based on quantitative imaging and...
Design of experiments for a confirmatory trial of precision medicine.
Precision medicine, aka stratified/personalized medicine, is becoming more pronounced in the medical field due to advancement in computational ability to learn about patient genomic backgrounds. A biomaker, i.e. a type of...
Precision Medicine in Phaeochromocytoma and Paraganglioma.
Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects....
Precision Medicine in Phaeochromocytoma and Paraganglioma.
Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects....
Familial pneumothorax
Rachel M Scott, Elizabeth P Henske, Benjamin Raby, Philip M Boone, Rosemary A Rusk, Stefan J Marciniak
May 18, 2018
One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with...
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models.
Rosa Lundbye Allesøe, Agnete Troen Lundgaard, Ricardo Hernández Medina, Alejandro Aguayo-Orozco, Joachim Johansen, Jakob Nybo Nissen, Caroline Brorsson, Gianluca Mazzoni, Lili Niu, Jorge Hernansanz Biel, Valentas Brasas, Henry Webel, Michael Eriksen Benros, Anders Gorm Pedersen, Piotr Jaroslaw Chmura, Ulrik Plesner Jacobsen, Andrea Mari, Robert Koivula, Anubha Mahajan, Ana Vinuela, Juan Fernandez Tajes, Sapna Sharma, Mark Haid, Mun-Gwan Hong, Petra B Musholt, Federico De Masi, Josef Vogt, Helle Krogh Pedersen, Valborg Gudmundsdottir, Angus Jones, Gwen Kennedy, Jimmy Bell, E Louise Thomas, Gary Frost, Henrik Thomsen, Elizaveta Hansen, Tue Haldor Hansen, Henrik Vestergaard, Mirthe Muilwijk, Marieke T Blom, Leen M 't Hart, Francois Pattou, Violeta Raverdy, Soren Brage, Tarja Kokkola, Alison Heggie, Donna McEvoy, Miranda Mourby, Jane Kaye, Andrew Hattersley, Timothy McDonald, Martin Ridderstråle, Mark Walker, Ian Forgie, Giuseppe N Giordano, Imre Pavo, Hartmut Ruetten, Oluf Pedersen, Torben Hansen, Emmanouil Dermitzakis, Paul W Franks, Jochen M Schwenk, Jerzy Adamski, Mark I McCarthy, Ewan Pearson, Karina Banasik, Simon Rasmussen, Søren Brunak, IMI DIRECT Consortium
Mar 16, 2023
The application of multiple omics technologies in biomedical cohorts has the potential to reveal patient-level disease characteristics and individualized response to treatment. However, the scale and heterogeneous nature of...
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Nov 23, 2022
Integrative Neuroinformatics for Precision Prognostication and Personalized Therapeutics in Moderate and Severe Traumatic Brain Injury.
Frederick A Zeiler, Yasser Iturria-Medina, Eric P Thelin, Alwyn Gomez, Jai J Shankar, Ji Hyun Ko, Chase R Figley, Galen EB Wright, Chris M Anderson
Sep 21, 2021
Despite changes in guideline-based management of moderate/severe traumatic brain injury (TBI) over the preceding decades, little impact on mortality and morbidity have been seen. This argues against the "one-treatment fits all"...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
Haplotype-aware graph indexes.
MOTIVATION: The variation graph toolkit (VG) represents genetic variation as a graph. Although each path in the graph is a potential haplotype, most paths are non-biological, unlikely recombinations of true haplotypes. RESULTS...
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.
Kerrin S Small, Asa K Hedman, Elin Grundberg, Alexandra C Nica, Gudmar Thorleifsson, Augustine Kong, Unnur Thorsteindottir, So-Youn Shin, Hannah B Richards, GIANT Consortium, MAGIC Investigators, DIAGRAM Consortium, Nicole Soranzo, Kourosh R Ahmadi, Cecilia M Lindgren, Kari Stefansson, Emmanouil T Dermitzakis, Panos Deloukas, Timothy D Spector, Mark I McCarthy, MuTHER Consortium
Jun 11, 2018
Genome-wide association studies have identified many genetic variants associated with complex traits. However, at only a minority of loci have the molecular mechanisms mediating these associations been characterized. In...
Recent advances of HCI in decision-making tasks for optimized clinical workflows and precision medicine.
The ever-increasing amount of biomedical data is enabling new large-scale studies, even though ad hoc computational solutions are required. The most recent Machine Learning (ML) and Artificial Intelligence (AI) techniques have...
Big data from electronic health records for early and late translational cardiovascular research
Harry Hemingway, Folkert W Asselbergs, John Danesh, Richard Dobson, Nikolaos Maniadakis, Aldo Maggioni, Ghislaine JM van Thiel, Maureen Cronin, Gunnar Brobert, Panos Vardas, Stefan D Anker, Diederick E Grobbee, Spiros Denaxas, Big Data for Better Outcomes, BigData@Heart Consortium of 20 academic and industry partners including ESC Innovative Medicines Initiative 2nd programme
Jul 30, 2018
AIMS: Cohorts of millions of people's health records, whole genome sequencing, imaging, sensor, societal and publicly available data present a rapidly expanding digital trace of health. We aimed to critically review, for the...
"I guess the trans identity goes with other minority identities"
Background: Research on trans and non-binary parents has identified challenges in integrating parenting and gender identities, and in navigating stigmatizing environments. Studies have also highlighted the unique experience of...
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
Viraj Patel, Babken Asatryan, Bhurint Siripanthong, Patricia B Munroe, Anjali Tiku-Owens, Luis R Lopes, Mohammed Y Khanji, Alexandros Protonotarios, Pasquale Santangeli, Daniele Muser, Francis E Marchlinski, Peter A Brady, C Anwar A Chahal
Sep 11, 2020
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have...
Multi-Omics Factor Analysis-a framework for unsupervised integration of multi-omics data sets.
Ricard Argelaguet, Britta Velten, Damien Arnol, Sascha Dietrich, Thorsten Zenz, John C Marioni, Florian Buettner, Wolfgang Huber, Oliver Stegle
Oct 10, 2018
Multi-omics studies promise the improved characterization of biological processes across molecular layers. However, methods for the unsupervised integration of the resulting heterogeneous data sets are lacking. We present...
Horizon Scanning in Cancer Genomics
Lydia M Seed
Aug 02, 2021
PURPOSE OF REVIEW: Advances in genomic medicine have the potential to revolutionise cancer patient care by driving forwards the clinical practice of precision oncology. This review aims to outline how genomic medicine advances...
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