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Human Mutation
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January 5, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, 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.
Bioinformatics (Oxford, England)
|
December 14, 2024
MOLGENIS Armadillo: a lightweight server for federated analysis using DataSHIELD
Tim Cadman, Mariska K Slofstra, Marije A van der Geest, et al.
Human Mutation
|
August 22, 2019
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Ivo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Human Mutation
|
January 5, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, 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.
Bioinformatics (Oxford, England)
|
December 14, 2024
MOLGENIS Armadillo: a lightweight server for federated analysis using DataSHIELD
Tim Cadman, Mariska K Slofstra, Marije A van der Geest, et al.
Human Mutation
|
August 22, 2019
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Ivo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, et al.
Page
of 1