Publications by authors named "Orion Buske"

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One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.
Matthew Osmond, E Magda Price, Orion J Buske, Mackenzie Frew, Madeline Couse

Hum Mutat· October 2025

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Orion J Buske

Nat Genet· November 2024

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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J Buske

Orphanet J Rare Dis· May 2023

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PhenomeCentral: 7 years of rare disease matchmaking.
Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea, Orion Buske

Hum Mutat· June 2022

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Orion J Buske

Hum Mutat· June 2022

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Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hannah G Driver, Taila Hartley, E Magda Price, Andrei L Turinsky, Orion J Buske

Hum Mutat· June 2022

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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Ana S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, Joseph T Alaimo, Shivarajan M Amudhavalli, Orion Buske

Genet Med· June 2022

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske

Nat Biotechnol· June 2022

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Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Matthew Osmond, Taila Hartley, David A Dyment, Kristin D Kernohan, Michael Brudno, Orion J Buske

Genet Med· January 2022

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GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Heidi L Rehm, Angela J H Page, Lindsay Smith, Jeremy B Adams, Gil Alterovitz, Orion J Buske

Cell Genom· November 2021

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Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Sebastian Köhler, N Christine Øien, Orion J Buske, Tudor Groza, Julius O B Jacobsen

Curr Protoc Hum Genet· September 2019

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PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.
Toyofumi Fujiwara, Yasunori Yamamoto, Jin-Dong Kim, Orion Buske, Toshihisa Takagi

Am J Hum Genet· September 2018

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Matchmaker Exchange.
Nara L M Sobreira, Harindra Arachchi, Orion J Buske, Jessica X Chong, Ben Hutton

Curr Protoc Hum Genet· October 2017

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The Human Phenotype Ontology in 2017.
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Orion J Buske

Nucleic Acids Res· January 2017

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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
William P Bone, Nicole L Washington, Orion J Buske, David R Adams, Joie Davis

Genet Med· June 2016

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Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.
Viviane Labrie, Orion J Buske, Edward Oh, Richie Jeremian, Carolyn Ptak

Nat Struct Mol Biol· June 2016

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Next-generation diagnostics and disease-gene discovery with the Exomiser.
Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Orion J Buske

Nat Protoc· December 2015

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The genomic birthday paradox: how much is enough?
Peter Krawitz, Orion Buske, Na Zhu, Michael Brudno, Peter N Robinson

Hum Mutat· October 2015

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PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Orion J Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley

Hum Mutat· October 2015

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The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Orion J Buske, François Schiettecatte, Benjamin Hutton, Sergiu Dumitriu, Andriy Misyura

Hum Mutat· October 2015

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The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Orion J Buske

Hum Mutat· October 2015

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Identification of deleterious synonymous variants in human genomes.
Orion J Buske, AshokKumar Manickaraj, Seema Mital, Peter N Ray, Michael Brudno

Bioinformatics· March 2015

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Identification of deleterious synonymous variants in human genomes.
Orion J Buske, AshokKumar Manickaraj, Seema Mital, Peter N Ray, Michael Brudno

Bioinformatics· August 2013

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iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data.
Aziz M Mezlini, Eric J M Smith, Marc Fiume, Orion Buske, Gleb L Savich

Genome Res· March 2013

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Unsupervised pattern discovery in human chromatin structure through genomic segmentation.
Michael M Hoffman, Orion J Buske, Jie Wang, Zhiping Weng, Jeff A Bilmes

Nat Methods· March 2012

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