List of works by Gudmundur A Thorisson

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

scientific article published in Nature Communications

A second generation human haplotype map of over 3.1 million SNPs

scientific article

Accreditation and attribution in data sharing

scientific article published on November 2009

BioMart--biological queries made easy

scientific article (publication date: 14 January 2009)

Finding and sharing: new approaches to registries of databases and services for the biomedical sciences

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genotype-phenotype databases: challenges and solutions for the post-genomic era.

scientific article

HGVbaseG2P: a central genetic association database

scientific article

Key Issue Collective Action for the Open Researcher & Contributor ID (ORCID) ⬇️

academic journal article, published 2011

ODIN: the ORCID and DataCite interoperability network

article published in International Journal of Knowledge and Learning, 2014

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

scientific article published on 4 April 2012

Quantifying the use of bioresources for promoting their sharing in scientific research

scientific article published on May 2013

Recommendation of: ORCID Works Metadata Working Group ⬇️

document published in 2013

Semantically enabling a genome-wide association study database

scientific article (publication date: 17 December 2012)

The International HapMap Project Web site

scientific article

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

scientific article

The SNP Consortium website: past, present and future

scientific article published on January 2003

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation

scientific article

The role of a bioresource research impact factor as an incentive to share human bioresources

scientific article published in June 2011

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

WormBase: a cross-species database for comparative genomics

scientific article

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