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Orion J Buske

Showing results (1-10 of 22) with videos related to

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Bioinformatics (Oxford, England)|May 4, 2010
The Genomedata format for storing large-scale functional genomics dataMichael M Hoffman, Orion J Buske, William Stafford Noble
Bioinformatics (Oxford, England)|December 10, 2014
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
Bioinformatics (Oxford, England)|June 6, 2013
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
BMC Bioinformatics|October 28, 2011
Exploratory analysis of genomic segmentations with SegtoolsOrion J Buske, Michael M Hoffman, Nadia Ponts, et al.
Nature Methods|March 20, 2012
Unsupervised pattern discovery in human chromatin structure through genomic segmentationMichael M Hoffman, Orion J Buske, Jie Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare CanadaMatthew Osmond, Taila Hartley, David A Dyment, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Current Protocols in Human Genetics|September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential DiagnosticsSebastian Köhler, N Christine Øien, Orion J Buske, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Bioinformatics (Oxford, England)|May 4, 2010
The Genomedata format for storing large-scale functional genomics dataMichael M Hoffman, Orion J Buske, William Stafford Noble
Bioinformatics (Oxford, England)|December 10, 2014
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
Bioinformatics (Oxford, England)|June 6, 2013
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
BMC Bioinformatics|October 28, 2011
Exploratory analysis of genomic segmentations with SegtoolsOrion J Buske, Michael M Hoffman, Nadia Ponts, et al.
Nature Methods|March 20, 2012
Unsupervised pattern discovery in human chromatin structure through genomic segmentationMichael M Hoffman, Orion J Buske, Jie Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare CanadaMatthew Osmond, Taila Hartley, David A Dyment, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Current Protocols in Human Genetics|September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential DiagnosticsSebastian Köhler, N Christine Øien, Orion J Buske, et al.
Pageof 3