Brian
3 Papers
Brian is an academic researcher. The author has contributed to research in topics: Medicine. The author has co-authored 1 publications.
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Papers
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
M. M. Monica H Wojcik,MD Gabrielle Lemire,Maha,MD PhD S Zaki,BS Mariel Wissman,BS Wathone Win,MD Sue White,BS Ben Weisburd,Leigh,BE Waddell,Jeffrey,MS M Verboon,MS Grace E. VanNoy,PhD Ana Töpf,Tiong,PhD Yang Tan MBBS,MD PhD Volker Straub,MD PhD Sarah L Stenton,Bse Hana Snow,MS Moriel Singer-Berk,MS Josh Silver,MS Shirlee Shril,MD Eleanor G Seaby,MD Ronen Schneider,MD PhD Vijay G Sankaran,PhD Alba Sanchis-Juan,BS Kathryn A Russell,MD PhD Karit Reinson,PhD Gianina Ravenscroft,MD PhD Eric A Pierce,MS Emily M Place,MD PhD Sander Pajusalu,MS Lynn Pais,Katrin,MD PhD Õunap,PhD Ikeoluwa Osei-Owusu,MD Volkan Okur,Kaisa,Teele Oja,MS Melanie O’Leary,BS Emily O’Heir,MD Chantal Morel,Rhett G Marchant BSc,Brian,BA E Mangilog,PhD Jill A Madden,PhD Daniel MacArthur,PhD Alysia Lovgren,PhD Jordan P Lerner-Ellis,Min-Hwa Jasmine Lin,PhD Nigel Laing,MD Friedhelm Hildebrandt,MD PhD Emily Groopman,PhD Julia Goodrich,MD Joseph G Gleeson,PhD Roula Ghaoui,MS Casie A Genetti,MD PhD Hanna T Gazda,Vijay Ganesh,PhD Mythily Ganapathy,Mgc Lyndon Gallacher,PhD Jack Fu,MS Emily Evangelista,MS Eleina England,MS Sandra Donkervoort,Stephanie P. DiTroia,Sandra,PhD T Cooper,MD PhD Wendy K Chung,John Christodoulou,BS Katherine R Chao,MD Liam D Cato,Kinga,PhD M Bujakowska,Samantha,PhD J Bryen,PhD Harrison Brand,MD Carsten Bonnemann,PhD PhD Alan H Beggs,Samantha Baxter,Pankaj,M. M. B Agrawal,PhD Michael Talkowski,PhD Chrissy Austin-Tse,PhD Heidi L Rehm,MD PhD Anne O’Donnell-Luria +85 more
TL;DR: A higher diagnostic yield of GS is revealed, supporting the utility of a genome-first approach and consideration of GS as a secondary or tertiary test when higher-resolution structural variant analysis is needed or there is a strong clinical suspicion for a condition and prior targeted genetic testing has been negative.
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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
Sarah L. Stenton,Melanie Collins O'Leary,Gabrielle Lemire,Grace E. VanNoy,Stephanie P. DiTroia,Vijay S. Ganesh,Emily E. Groopman,Emily O'Heir,Brian,Mangilog,Ikeoluwa A. Osei-Owusu,Lynn Pais,J Verdejo Serrano,Moriel Singer-Berk,Ben Weisburd,Michael D. Wilson,Christina Austin-Tse,Marwa Abdelhakim,Azza,Althagafi,Giulia Babbi,Riccardo Bellazzi,S. Bovo,M. G. Carta,Rita Casadio,Pieter-Jan Coenen,F. D. Paoli,Matteo Floris,Manavalan,Gajapathy,Robert Hoehndorf,Julius O.B. Jacobsen,Thomas Joseph,Akash,Kamandula,Panagiotis Katsonis,C. Kint,Olivier Lichtarge,Ivan,Limongelli,Yulan Lu,Paolo Magni,Tarun Karthik Kumar Mamidi,P. Luigi,Martelli,Marta Mulargia,Giovanna Nicora,Keith Nykamp,Vikas Pejaver,Yisu,Peng,Thi Hong Giang Pham,Maurizio Salvatore Podda,Aditya Rao,Ettore Rizzo,Vangala G Saipradeep,Castrense Savojardo,P. Schols,Yang Shen,Naveen Sivadasan,Damian Smedley,D. Soru,Rajgopal Srinivasan,Yuanfei,Sun,Uma Sunderam,Wuwei Tan,Naina Tiwari,Xiao Wang,Yaqiong Wang,A. Williams,Elizabeth A. Worthey,Rujie Yin,Yuning You,Daniel,Zeiberg,Susanna Zucca,Constantina Bakolitsa,Steven E. Brenner,M. Stephanie,Fullerton,Predrag Radivojac,Heidi L. Rehm,Anne H. O’Donnell-Luria +83 more
TL;DR: By objective assessment of variant predictions, this work provides insights into current state-of-the-art algorithms and platforms for genome sequencing analysis for rare disease diagnosis and explore areas for future optimization.
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Evaluation of the impact of COVID-19 pandemic on hospital admission related to common infections
Alifia Risma Fahmi,Victoria Palin,Ya-Ting Yang,S. Watts,Darren M. Ashcroft,Ben,Goldacre,Brian,Mackenna,Louis,Jon,Amir,Kieran Hand +12 more
TL;DR: In this paper , the authors used Cox proportional-hazard regression models to predict risk of infection-related hospital admission in 30 days follow-up period after the diagnosis and found that the effectiveness of antibiotics in preventing complications related to LRTI and UTI can support better targeting of antibiotics to patients with higher complication risks.
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