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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

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research ⬇️

scientific article published on March 22, 2011

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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