Literature DB >> 35705716

The GA4GH Phenopacket schema defines a computable representation of clinical data.

Julius O B Jacobsen1, Michael Baudis2,3, Gareth S Baynam4,5,6, Jacques S Beckmann7, Sergi Beltran8,9,10, Orion J Buske11, Tiffany J Callahan12, Christopher G Chute13, Mélanie Courtot14,15, Daniel Danis16, Olivier Elemento17, Andrea Essenwanger18, Robert R Freimuth19, Michael A Gargano16, Tudor Groza20, Ada Hamosh21, Nomi L Harris22, Rajaram Kaliyaperumal23, Kevin C Kent Lloyd24,25, Aly Khalifa19, Peter M Krawitz26, Sebastian Köhler27, Brian J Laraway12, Heikki Lehväslaiho28, Leslie Matalonga8, Julie A McMurry12, Alejandro Metke-Jimenez29, Christopher J Mungall22, Monica C Munoz-Torres12, Soichi Ogishima30, Anastasios Papakonstantinou8, Davide Piscia8, Nikolas Pontikos31,32, Núria Queralt-Rosinach23, Marco Roos23, Julian Sass18, Paul N Schofield33,34,35, Dominik Seelow36,37, Anastasios Siapos38, Damian Smedley39, Lindsay D Smith15,40, Robin Steinhaus36,37, Jagadish Chandrabose Sundaramurthi16, Emilia M Swietlik41,42,43, Sylvia Thun18, Nicole A Vasilevsky12, Alex H Wagner44,45, Jeremy L Warner46, Claus Weiland47, Melissa A Haendel48, Peter N Robinson49,50.   

Abstract

Entities:  

Year:  2022        PMID: 35705716      PMCID: PMC9363006          DOI: 10.1038/s41587-022-01357-4

Source DB:  PubMed          Journal:  Nat Biotechnol        ISSN: 1087-0156            Impact factor:   68.164


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  5 in total

1.  OARD: Open annotations for rare diseases and their phenotypes based on real-world data.

Authors:  Cong Liu; Casey N Ta; Jim M Havrilla; Jordan G Nestor; Matthew E Spotnitz; Andrew S Geneslaw; Yu Hu; Wendy K Chung; Kai Wang; Chunhua Weng
Journal:  Am J Hum Genet       Date:  2022-08-22       Impact factor: 11.043

2.  Implementation of Privacy and Security for a Genomic Information System Based on Standards.

Authors:  Silvia Llorente; Jaime Delgado
Journal:  J Pers Med       Date:  2022-05-31

Review 3.  Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.

Authors:  David Lewis-Smith; Shridhar Parthasarathy; Julie Xian; Michael C Kaufman; Shiva Ganesan; Peter D Galer; Rhys H Thomas; Ingo Helbig
Journal:  Hum Mutat       Date:  2022-05-22       Impact factor: 4.700

4.  Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.

Authors:  Jordi Rambla; Michael Baudis; Roberto Ariosa; Tim Beck; Lauren A Fromont; Arcadi Navarro; Rahel Paloots; Manuel Rueda; Gary Saunders; Babita Singh; John D Spalding; Juha Törnroos; Claudia Vasallo; Colin D Veal; Anthony J Brookes
Journal:  Hum Mutat       Date:  2022-04-08       Impact factor: 4.700

5.  Deep phenotyping: symptom annotation made simple with SAMS.

Authors:  Robin Steinhaus; Sebastian Proft; Evelyn Seelow; Tobias Schalau; Peter N Robinson; Dominik Seelow
Journal:  Nucleic Acids Res       Date:  2022-05-07       Impact factor: 19.160

  5 in total

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