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Human Mutation
|
February 14, 2015
The ARVD/C genetic variants database: 2014 update
Elisabetta Lazzarini, Jan D H Jongbloed, Kalliopi Pilichou, et al.
Bioinformatics (Oxford, England)
|
October 17, 2017
BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration
Chao Pang, Fleur Kelpin, David van Enckevort, et al.
Bioinformatics (Oxford, England)
|
May 7, 2016
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks
Chao Pang, David van Enckevort, Mark de Haan, et al.
Database : the Journal of Biological Databases and Curation
|
September 20, 2015
SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data
Chao Pang, Annet Sollie, Anna Sijtsma, et al.
NAR Genomics and Bioinformatics
|
June 30, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods
Willem T K Maassen, Lennart F Johansson, Bart Charbon, et al.
Genome Medicine
|
August 25, 2020
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Shuang Li, K Joeri van der Velde, Dick de Ridder, et al.
American Journal of Human Genetics
|
April 2, 2025
Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays
Pauline Lanting, Robert Warmerdam, Jelle Slager, et al.
Bioinformatics (Oxford, England)
|
August 31, 2018
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
K Joeri van der Velde, Floris Imhann, Bart Charbon, et al.
International Journal of Molecular Sciences
|
April 17, 2025
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders
Eddy N de Boer, Arjen J Scheper, Dennis Hendriksen, et al.
International Journal of Neonatal Screening
|
March 27, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Gea Kiewiet, Dineke Westra, Eddy N de Boer, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Human Mutation
|
February 14, 2015
The ARVD/C genetic variants database: 2014 update
Elisabetta Lazzarini, Jan D H Jongbloed, Kalliopi Pilichou, et al.
Bioinformatics (Oxford, England)
|
October 17, 2017
BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration
Chao Pang, Fleur Kelpin, David van Enckevort, et al.
Bioinformatics (Oxford, England)
|
May 7, 2016
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks
Chao Pang, David van Enckevort, Mark de Haan, et al.
Database : the Journal of Biological Databases and Curation
|
September 20, 2015
SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data
Chao Pang, Annet Sollie, Anna Sijtsma, et al.
NAR Genomics and Bioinformatics
|
June 30, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods
Willem T K Maassen, Lennart F Johansson, Bart Charbon, et al.
Genome Medicine
|
August 25, 2020
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Shuang Li, K Joeri van der Velde, Dick de Ridder, et al.
American Journal of Human Genetics
|
April 2, 2025
Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays
Pauline Lanting, Robert Warmerdam, Jelle Slager, et al.
Bioinformatics (Oxford, England)
|
August 31, 2018
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
K Joeri van der Velde, Floris Imhann, Bart Charbon, et al.
International Journal of Molecular Sciences
|
April 17, 2025
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders
Eddy N de Boer, Arjen J Scheper, Dennis Hendriksen, et al.
International Journal of Neonatal Screening
|
March 27, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Gea Kiewiet, Dineke Westra, Eddy N de Boer, et al.
Page
of 2