A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse.
Nicolas Garcelon,Antoine Neuraz,Rémi Salomon,Hassan Faour,Vincent Benoit,Arthur Delapalme,Arnold Munnich,Anita Burgun,Bastien Rance +8 more
TLDR
Dr. Warehouse is dedicated to translational research with cohort recruitment capabilities, high throughput phenotyping and patient centric views (including similarity metrics among patients), and features leverage Natural Language Processing based on the extraction of UMLS® concepts, as well as negation and family history detection.About:
This article is published in Journal of Biomedical Informatics.The article was published on 2018-03-01 and is currently open access. It has received 76 citations till now. The article focuses on the topics: Data warehouse & Database model.read more
Citations
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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark,Amber Hildreth,Amber Hildreth,Amber Hildreth,Sergey Batalov,Yan Ding,Shimul Chowdhury,Kelly Watkins,Katarzyna A. Ellsworth,Brandon Camp,Cyrielle Kint,Calum Yacoubian,Lauge Farnaes,Lauge Farnaes,Matthew N. Bainbridge,Curtis Beebe,Joshua J.A. Braun,Margaret Bray,Jeanne Carroll,Jeanne Carroll,Julie A. Cakici,Sara A. Caylor,Christina Clarke,Mitchell Creed,Jennifer Friedman,Jennifer Friedman,Alison Frith,Richard Gain,Mary Gaughran,Shauna George,Sheldon Gilmer,Joseph G. Gleeson,Joseph G. Gleeson,Jeremy Gore,Haiying Li Grunenwald,Raymond Hovey,Marie L. Janes,Kejia Lin,Paul D. McDonagh,Kyle McBride,Patrick Mulrooney,Shareef Nahas,Daeheon Oh,Albert Oriol,Laura Puckett,Zia Rady,Martin G. Reese,Julie Ryu,Julie Ryu,Lisa Salz,Erica Sanford,Erica Sanford,Lawrence Stewart,Nathaly M. Sweeney,Nathaly M. Sweeney,Mari Tokita,Luca Van Der Kraan,Sarah White,Kristen Wigby,Kristen Wigby,Brett Williams,Terence C. Wong,Meredith S. Wright,Catherine Yamada,Peter Schols,John Reynders,Kevin Hall,David Dimmock,Narayanan Veeraraghavan,Thomas Defay,Stephen F. Kingsmore +70 more
TL;DR: A platform for population-scale, provisional diagnosis of genetic diseases with automated phenotyping and interpretation and could aid clinicians to expedite an accurate genetic disease diagnosis, potentially hastening lifesaving changes to patient care.
Journal ArticleDOI
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?
Sandra Brasil,Carlota Pascoal,Rita Francisco,Vanessa dos Reis Ferreira,Paula A. Videira,Gonçalo Valadão,Gonçalo Valadão +6 more
TL;DR: This review aims to collect and summarize AI approaches being used in RDs and a section dedicated to congenital disorders of glycosylation (CDG), a particular group of orphan RDs that can serve as a potential study model for other common diseases and RDs, has been included.
Journal ArticleDOI
French administrative health care database (SNDS): The value of its enrichment.
Lucie-Marie Scailteux,Catherine Droitcourt,Frédéric Balusson,Emmanuel Nowak,Sandrine Kerbrat,Alain Dupuy,Erwan Drezen,André Happe,Emmanuel Oger +8 more
TL;DR: The value of SNIIRAM/SNDS enrichment by external databases, and the linkage issues, is exposed and a multidisciplinary team with medical, pharmacological and methodological knowledge, as well as with technical skills is essential.
Journal ArticleDOI
Omalizumab Therapy for Mast Cell-Mediator Symptoms in Patients with ISM, CM, MMAS, and MCAS
Richard Lemal,Guillemette Fouquet,Louis Terriou,Melanie Vaes,Cristina Bulai Livideanu,Laurent Frenzel,Stéphane Barete,Danielle Canioni,Ludovic Lhermitte,Julien Rossignol,Michel Arock,Patrice Dubreuil,Olivier Lortholary,Olivier Hermine +13 more
TL;DR: Omalizumab seems to be a useful therapeutic option to control mast cell-mediator symptoms and displays a favorable safety profile.
Journal ArticleDOI
Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome
Anna E. Mason,Ethan S Sen,Agnieszka Bierzynska,Elizabeth Colby,Maryam Afzal,Guillaume Dorval,Ania Koziell,Maggie Williams,Olivia Boyer,Gavin I. Welsh,Moin A. Saleem,NephroS Study +11 more
TL;DR: Patients with monogenic steroid-resistant nephrotic syndrome had a poor therapeutic response and no post-transplant recurrence, and in genetic-testing-negative patients, there was an association between response to first intensified immunosuppression and long-term outcome.
References
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Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications
Guergana Savova,James J. Masanz,Philip V. Ogren,Jiaping Zheng,Sunghwan Sohn,Karin C Kipper-Schuler,Christopher G. Chute +6 more
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The Unified Medical Language System
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Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.
Nicolas Garcelon,Nicolas Garcelon,Antoine Neuraz,Antoine Neuraz,RĂŠmi Salomon,RĂŠmi Salomon,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Jeanne Amiel,Jeanne Amiel,Jeanne Amiel,Capucine Picard,Capucine Picard,Nizar Mahlaoui,Vincent Benoit,Anita Burgun,Anita Burgun,Anita Burgun,Bastien Rance,Bastien Rance +19 more