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Authors whose works are in public domain in at least one jurisdiction

List of works by Morris A Swertz

51-100 of 137 results

WormQTLHD--a web database for linking human disease to natural variation data in C. elegans

scientific article

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

scientific article published on 4 February 2016

Addendum: The FAIR Guiding Principles for scientific data management and stewardship

article by Mark D Wilkinson et al published 19 March 2019 in Scientific Data

XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments

scientific article

Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

scientific article published on 12 April 2017

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Molecular Genetics Information System (MOLGENIS): alternatives in developing local experimental genomics databases

scientific article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

Solutions for data integration in functional genomics: a critical assessment and case study

scientific article

Interoperability and FAIRness through a novel combination of Web technologies

scientific article (publication date: 24 April 2017)

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

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

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

scientific article published on 16 January 2017

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

scientific article

Understanding human immune function using the resources from the Human Functional Genomics Project

scientific article published on August 2016

Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).

scientific article

BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples

scientific article published on December 2016

MetaNetwork: a computational protocol for the genetic study of metabolic networks

scientific article published on 01 January 2007

OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript

scientific article

BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing

scientific article

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

scientific article

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

scientific article published on 28 June 2019

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

scientific article

A novel biomarker panel for irritable bowel syndrome and the application in the general population

scientific article published on 06 June 2016

Bioinformatics tools and database resources for systems genetics analysis in mice--a short review and an evaluation of future needs

scientific article (publication date: March 2012)

xQTL workbench: a scalable web environment for multi-level QTL analysis

scientific article published on 3 February 2012

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

scientific article

Modifiers of mutant huntingtin aggregation: functional conservation of C. elegans-modifiers of polyglutamine aggregation

scientific article

Estimation of Genetic Relationships Between Individuals Across Cohorts and Platforms: Application to Childhood Height

scientific article

ontoCAT: an R package for ontology traversal and search

scientific article

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

scientific article

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts

scientific article

Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes

scientific article

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

Worm variation made accessible: Take your shopping cart to store, link, and investigate!

scientific article published on January 2014

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

scientific article published on 08 June 2018

Consensus and conflict cards for metabolic pathway databases

scientific article

RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture

scientific article published on 29 March 2016

Erratum: Corrigendum: Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi

article

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

scientific article published on 29 March 2018

MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks

scientific article

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

designGG: an R-package and web tool for the optimal design of genetical genomics experiments

scientific article

SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

scientific article published on 18 September 2015

Hypothermia Improves Oral and Gastric Mucosal Microvascular Oxygenation during Hemorrhagic Shock in Dogs

scientific article published on November 12, 2013

Workshop on laboratory protocol standards for the Molecular Methods Database

scientific article

A high-throughput processing service for retention time alignment of complex proteomics and metabolomics LC-MS data

scientific article

The interaction of genetic predisposition and socioeconomic position with type 2 diabetes mellitus: cross-sectional and longitudinal analyses from the Lifelines Cohort and Biobank Study

scientific article published on 29 January 2018

Molgenis-impute: imputation pipeline in a box

scientific article published on 19 August 2015