Orion Buske
Orion Buske
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Cited by
Cited by
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature 489 (7414), 57, 2012
A user’s guide to the encyclopedia of DNA elements (ENCODE)
ENCODE Project Consortium
PLoS Biol 9 (4), e1001046, 2011
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
Unsupervised pattern discovery in human chromatin structure through genomic segmentation
MM Hoffman, OJ Buske, J Wang, Z Weng, JA Bilmes, WS Noble
Nature Methods 9 (5), 473-476, 2012
The Matchmaker Exchange: A platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human Mutation 36 (10), 915-921, 2015
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data
AM Mezlini, EJM Smith, M Fiume, O Buske, GL Savich, S Shah, S Aparicio, ...
Genome research 23 (3), 519-529, 2013
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ...
Human mutation 36 (10), 931-940, 2015
GA4GH: International policies and standards for data sharing across genomic research and healthcare
HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ...
Cell genomics 1 (2), 2021
Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging
V Labrie, OJ Buske, E Oh, R Jeremian, C Ptak, G Gasiūnas, A Maleckas, ...
Nature Structural & Molecular Biology 23 (6), 566-573, 2016
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ...
Genetics in Medicine 18 (6), 608-617, 2016
Identification of deleterious synonymous variants in human genomes
OJ Buske, AK Manickaraj, S Mital, PN Ray, M Brudno
Bioinformatics 29 (15), 1843-1850, 2013
Matchmaker exchange
NLM Sobreira, H Arachchi, OJ Buske, JX Chong, B Hutton, J Foreman, ...
Current protocols in human genetics 95 (1), 9.31. 1-9.31. 15, 2017
The Matchmaker Exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles
OJ Buske, F Schiettecatte, B Hutton, S Dumitriu, A Misyura, L Huang, ...
Human mutation 36 (10), 922-927, 2015
PubCaseFinder: A case-report-based, phenotype-driven differential-diagnosis system for rare diseases
T Fujiwara, Y Yamamoto, JD Kim, O Buske, T Takagi
The American Journal of Human Genetics 103 (3), 389-399, 2018
Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes
ASA Cohen, EG Farrow, AT Abdelmoity, JT Alaimo, SM Amudhavalli, ...
Genetics in Medicine 24 (6), 1336-1348, 2022
Encoding clinical data with the human phenotype ontology for computational differential diagnostics
S Köhler, NC Øien, OJ Buske, T Groza, JOB Jacobsen, C McNamara, ...
Current protocols in human genetics 103 (1), e92, 2019
The GA4GH Phenopacket schema defines a computable representation of clinical data
JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ...
Nature biotechnology 40 (6), 817-820, 2022
Exploratory analysis of genomic segmentations with Segtools
O Buske, M Hoffman, N Ponts, K Le Roch, W Noble
BMC Bioinformatics 12 (1), 415, 2011
The Genomedata format for storing large-scale functional genomics data
MM Hoffman, OJ Buske, WS Noble
Bioinformatics 26 (11), 1458-1459, 2010
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