Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2021

Identification of deleterious synonymous variants in human genomes

artículo científico publicado en 2013

Identification of deleterious synonymous variants in human genomes

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Matchmaker Exchange

artículo científico publicado en 2017

Mondo: Unifying diseases for the world, by the world

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

The Genomedata format for storing large-scale functional genomics data

artículo científico publicado en 2010

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

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

artículo científico publicado en 2015

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

The genomic birthday paradox: how much is enough?

artículo científico publicado en 2015

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

artículo científico publicado en 2012

Variant detection and the Autism sequencing project

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Lista de obras de

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