Search

Your search keyword '"Slofstra, Mariska K."' showing total 6 results
Start Over Author "Slofstra, Mariska K."
6 results on '"Slofstra, Mariska K."'

1. MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysis

Author

Maassen, Willem T.K., primary, Johansson, Lennart F., additional, Charbon, Bart, additional, Hendriksen, Dennis, additional, van den Hoek, Sander, additional, Slofstra, Mariska K., additional, Mulder, Rene, additional, Meems-Veldhuis, Martine T., additional, Sietsma, Robert, additional, Lemmink, Henny H., additional, van Diemen, Cleo C., additional, van Gijn, Marielle E., additional, Swertz, Morris A., additional, and van der Velde, Kasper J., additional

Published
2024
Full Text
View/download PDF

2. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Author

Fokkema, I.F., Velde, K.J. van der, Slofstra, Mariska K., Ruivenkamp, C.A.L., Vogel, M.J., Pfundt, R.P., Wieskamp, N.A., Swertz, M.A., Gijn, Marielle E. van, Fokkema, I.F., Velde, K.J. van der, Slofstra, Mariska K., Ruivenkamp, C.A.L., Vogel, M.J., Pfundt, R.P., Wieskamp, N.A., Swertz, M.A., and Gijn, Marielle E. van

Abstract

Contains fulltext : 213593.pdf (publisher's version ) (Open Access)

Published
2019

3. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Author

Fokkema, Ivo F.A.C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A.L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J.G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F.J., Swertz, Morris A., van Gijn, Marielle E., Fokkema, Ivo F.A.C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A.L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J.G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F.J., Swertz, Morris A., and van Gijn, Marielle E.

Published
2019

4. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Author

CMM USEQ Facility, Cancer, Genetica, Infection & Immunity, Fokkema, Ivo F.A.C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A.L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J.G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F.J., Swertz, Morris A., van Gijn, Marielle E., CMM USEQ Facility, Cancer, Genetica, Infection & Immunity, Fokkema, Ivo F.A.C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A.L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J.G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F.J., Swertz, Morris A., and van Gijn, Marielle E.

Published
2019

5. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Author

Fokkema, Ivo F. A. C., primary, Velde, Kasper J., additional, Slofstra, Mariska K., additional, Ruivenkamp, Claudia A. L., additional, Vogel, Maartje J., additional, Pfundt, Rolph, additional, Blok, Marinus J., additional, Lekanne Deprez, Ronald H., additional, Waisfisz, Quinten, additional, Abbott, Kristin M., additional, Sinke, Richard J., additional, Rahman, Rubayte, additional, Nijman, Isaäc J., additional, Koning, Bart, additional, Thijs, Gert, additional, Wieskamp, Nienke, additional, Moritz, Ruben J. G., additional, Charbon, Bart, additional, Saris, Jasper J., additional, den Dunnen, Johan T., additional, Laros, Jeroen F. J., additional, Swertz, Morris A., additional, and Gijn, Marielle E., additional

Published
2019
Full Text
View/download PDF

6. MOLGENIS Armadillo: a lightweight server for federated analysis using DataSHIELD.

Author

Cadman T, Slofstra MK, van der Geest MA, Avraam D, Bishop TRP, de Boer T, Duijts L, Haakma S, Hyde E, Jaddoe V, Karramass T, Kelpin F, Marcon Y, Pinot de Moira A, Postma D, Tolboom C, Veenstra RL, Wheater S, Welten M, Wilson RC, Zwart E, and Swertz M

Abstract

Summary: Extensive human health data from cohort studies, national registries, and biobanks can reveal lifecourse risk factors impacting health. Combining these sources offers increased statistical power, rare outcome detection, replication of findings, and extended study periods. Traditionally, this required data transfer to a central location or separate partner analyses with pooled summary statistics, posing ethical, legal, and time constraints. Federated analysis-which involves remote data analysis without sharing individual-level data-is a promising alternative. One promising solution is DataSHIELD (https://datashield.org/), an open-source R based implementation. To enable federated analysis, data owners need a user-friendly way to install the federated infrastructure and manage users and data. Here we present MOLGENIS Armadillo: a lightweight server for federated analysis solutions such as DataSHIELD., Availability and Implementation: Armadillo is implemented as a collection of three packages freely available under the open source licence LGPLv3: two R packages downloadable from the Comprehensive R Archive Network (CRAN) ("MolgenisArmadillo" and" DSMolgenisArmdillo") and one Java application ("ArmadilloService") as jar and docker images via Github (https://github.com/molgenis/molgenis-service-armadillo)., Supplementary Materials: In Supplementary material we include screenshots of the user interface (UI) to illustrate the use of Armadillo., (© The Author(s) 2024. Published by Oxford University Press.)

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results