List of works - Orion J Buske

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

scientific article

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

scientific article published on 01 September 2019

Exploratory analysis of genomic segmentations with Segtools

scientific article

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

Identification of deleterious synonymous variants in human genomes

scientific article published on 4 June 2013

Identification of deleterious synonymous variants in human genomes

scientific article published on 08 December 2014

Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging

scientific article published on 09 May 2016

Matchmaker Exchange

scientific article

Mondo: Unifying diseases for the world, by the world

Next-generation diagnostics and disease-gene discovery with the Exomiser

scientific article

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

scientific article

PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

The Genomedata format for storing large-scale functional genomics data

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

scientific article

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The genomic birthday paradox: how much is enough?

scientific article published on 2 August 2015

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

scientific article published on 18 March 2012

Variant detection and the Autism sequencing project

scientific article published on 21 November 2011

iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data

scientific article

List of works by Orion J Buske

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Exploratory analysis of genomic segmentations with Segtools

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Identification of deleterious synonymous variants in human genomes

Identification of deleterious synonymous variants in human genomes

Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging

Matchmaker Exchange

Mondo: Unifying diseases for the world, by the world

Next-generation diagnostics and disease-gene discovery with the Exomiser

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

The Genomedata format for storing large-scale functional genomics data

The Human Phenotype Ontology in 2017

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

The Matchmaker Exchange: a platform for rare disease gene discovery

The genomic birthday paradox: how much is enough?

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

Variant detection and the Autism sequencing project

iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data