Search filters

List of works by Morris A Swertz

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans.

scientific article published on November 2016

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

scientific article published on 06 October 2016

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

scientific article

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

scientific article published on 06 June 2016

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

scientific article published on 23 November 2016

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

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

Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms

scientific article published on 22 September 2016

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

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

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

scientific article published on December 2016

BBMRI-ERIC's contributions to research and knowledge exchange on COVID-19

scientific article published on 22 May 2020

Beyond standardization: dynamic software infrastructures for systems biology

scientific article published on 13 February 2007

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

scientific article

BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration

scientific article published on 2 August 2017

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)

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

scientific article published on 24 August 2020

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

scientific article published on 29 September 2017

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

scientific article

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

scientific article

Characteristics of de novo structural changes in the human genome

scientific article

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

scientific article

Cohort Profile: LifeLines, a three-generation cohort study and biobank

scientific article published on 14 December 2014

Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics

scientific article

Complex nature of SNP genotype effects on gene expression in primary human leucocytes

scientific article

Consensus and conflict cards for metabolic pathway databases

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

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article published on 26 May 2017

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

scientific article

Diagnostic interpretation of array data using public databases and internet sources

scientific article

Differential Effects of Environmental and Genetic Factors on T and B Cell Immune Traits

scientific article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 26 September 2016

Disease variants alter transcription factor levels and methylation of their binding sites

scientific article published on 5 December 2016

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

article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

scientific article

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

scientific article published on 16 January 2017

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic evidence of assortative mating in humans

article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

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

scientific article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide patterns and properties of de novo mutations in humans

scientific article published on 18 May 2015

Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration

scientific article published on 11 December 2014

Global genetic robustness of the alternative splicing machinery in Caenorhabditis elegans

scientific article

Host and Environmental Factors Influencing Individual Human Cytokine Responses

scientific article published on November 2016

Identification of context-dependent expression quantitative trait loci in whole blood

scientific article published on 5 December 2016

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

Implementing Individually Tailored Prescription of Physical Activity in Routine Clinical Care: Protocol of the Physicians Implement Exercise = Medicine (PIE=M) Development and Implementation Project

scientific article published on 02 November 2020

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

scientific article published on 4 June 2014

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

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

article

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

scientific article published on 4 July 2016

Interoperability and FAIRness through a novel combination of Web technologies ⬇️

scientific article (publication date: 24 April 2017)

Interoperability and FAIRness through a novel combination of Web technologies

Interoperability and FAIRness through a novel combination of Web technologies

Interoperability and FAIRness through a novel combination of Web technologies

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

scientific article

MOLGENIS catalogue

scientific article published on 22 May 2015

MOLGENIS/OMX for multi-omics and personalized medicine

scientific article published on 22 May 2015

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

scientific article

Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin

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

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

scientific article published on 01 January 2007

Metabolic Age Based on the BBMRI-NL 1H-NMR Metabolomics Repository as Biomarker of Age-related Disease

scientific article published on 14 August 2020

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

scientific article published on 12 April 2017

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

scientific article

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

scientific article

Molgenis-impute: imputation pipeline in a box

scientific article published on 19 August 2015

Mouse Resource Browser--a database of mouse databases

scientific article published on 06 July 2010

Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration

scientific article published on 12 November 2019

Mutation update on the CHD7 gene involved in CHARGE syndrome

scientific article

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

scientific article published in December 2012

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

scientific article published on 05 December 2016

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

scholarly article by Lennart F Johansson published in December 2018

Neurodegenerative diseases: Lessons from genome-wide screens in small model organisms

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific 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

Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

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

OntoCAT – a simpler way to access ontology resources

OntoCAT – an integrated programming toolkit for common ontology application tasks

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

scientific article

PeakML/mzMatch: a file format, Java library, R library, and tool-chain for mass spectrometry data analysis

scientific article

Population-based metagenomics analysis reveals markers for gut microbiome composition and diversity

scientific article

Population-specific genotype imputations using minimac or IMPUTE2.

scientific article published on 30 July 2015

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

PyPedia: using the wiki paradigm as crowd sourcing environment for bioinformatics protocols

scientific article

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

scientific article published on 29 March 2016

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

scientific article published on 18 September 2015

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.

scientific article published on 2 April 2018

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

scientific article

State-of-the-Art and Future Challenges in the Integration of Biobank Catalogues

scientific article published in 2015

The ARVD/C genetic variants database: 2014 update

scientific article

The Data Use Ontology to streamline responsible access to human biomedical datasets

scientific article published on 10 November 2021

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

scientific article published on 13 October 2020

The FAIR Guiding Principles for scientific data management and stewardship

scientific article (publication date: 15 March 2016)

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

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

scientific article

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

scientific article

The effect of host genetics on the gut microbiome

scientific article published on 03 October 2016

The hybrid synthetic microdata platform: a method for statistical disclosure control

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

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

scientific article published on 9 September 2011

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

The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies

scientific article

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

scientific article

Towards a MOLGENIS Based Computational Framework

Towards dynamic database infrastructures for mouse genetics

article

Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics

scientific article (publication date: 22 January 2010)

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

scientific article published on 25 February 2016

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

scientific article published on August 2016

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

scholarly article published 19 October 2018

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

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

Workshop on laboratory protocol standards for the Molecular Methods Database

scientific article

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

scientific article published on January 2014

WormQTL--public archive and analysis web portal for natural variation data in Caenorhabditis spp.

scientific article

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

scientific article

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

scientific article

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

scientific article

ontoCAT: an R package for ontology traversal and search

scientific article

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

scientific article published on 3 February 2012

Paulina is supported by:

About Paulina

Help