Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Bart van der Sanden"'
Autor:
Heba Sourkatti, Kati Pettersson, Bart van der Sanden, Mikko Lindholm, Johan Plomp, Ilmari Määttänen, Pentti Henttonen, Johanna Närväinen
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23611- (2024)
Background: Machine learning is becoming a common tool in monitoring emotion. However, methodological studies of the processing pipeline are scarce, especially ones using subjective appraisals as ground truth. New method: A novel protocol was used to
Externí odkaz:
https://doaj.org/article/6ab2e735d1084f28bbfcea5445f4f580
Autor:
Erdi Kucuk, Shreyasee Chakraborty, Marcel R. Nelen, Han G. Brunner, Lisenka E.L.M. Vissers, Primo Baybayan, Michael Kwint, Bart van der Sanden, Alexander Hoischen, Ronny Derks, Marc Pauper, Aaron M. Wenger, Christian Gilissen
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 29(4), 637-648. Nature Publishing Group
European Journal of Human Genetics, 29, 637-648
European Journal of Human Genetics, 29, 4, pp. 637-648
European Journal of Human Genetics, 29(4), 637-648. Nature Publishing Group
European Journal of Human Genetics, 29, 637-648
European Journal of Human Genetics, 29, 4, pp. 637-648
Contains fulltext : 235027.pdf (Publisher’s version ) (Open Access) Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS)
Autor:
Aaron M. Wenger, Christian Gilissen, Erdi Kucuk, Shreyasee Chakraborty, Bart van der Sanden, Lisenka E.L.M. Vissers, Michael Kwint, Alexander Hoischen, Ronny Derks, Han G. Brunner, Primo Baybayan, Marc Pauper, Marcel R. Nelen
Publikováno v:
Eur J Hum Genet
Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS) approaches. To determine this potential, we performed LRS around 15×
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::befc2461f9449931b1f271e0e186a760
https://europepmc.org/articles/PMC8115538/
https://europepmc.org/articles/PMC8115538/
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Autor:
Michelle de Groot, Bart P.C. van de Warrenburg, Helger G. Yntema, Maartje Pennings, Erik-Jan Kamsteeg, Jordi Corominas, Nienke E. Verbeek, Lisenka E.L.M. Vissers, Bart van der Sanden, Rowdy Meijer, Meyke Schouten, Christian Gilissen
Publikováno v:
Genetics in Medicine, 23, 1569-1573
Genetics in Medicine, 23, 8, pp. 1569-1573
Genetics in Medicine
Genetics in Medicine, 23, 8, pp. 1569-1573
Genetics in Medicine
PurposeThe expansion of specific short tandem repeats (STRs) can lead to approximately 30 different human genetic disorders. Despite extensive application of exome sequencing (ES) in routine diagnostic genetic testing, STRs are not routinely identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4fcee3623c72dffa0933264dce2a7c
http://hdl.handle.net/2066/237911
http://hdl.handle.net/2066/237911