Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bart P. G. H. van der Sanden"'
Autor:
Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels
Externí odkaz:
https://doaj.org/article/590b4d540eb5411bb3b8f2bd4ce985c0
Autor:
Bart P. G. H. van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B. A. de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P. Stegmann, Servi J. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel R. Nelen, Lisenka E. L. M. Vissers
Publikováno v:
European Journal of Human Genetics, 31, 1, pp. 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88
Contains fulltext : 290609.pdf (Publisher’s version ) (Open Access) Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbe9ba94a13c894fbcc6b704f44764b
https://repository.ubn.ru.nl/handle/2066/290609
https://repository.ubn.ru.nl/handle/2066/290609
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Autor:
Bart P G H, van der Sanden, Jordi, Corominas, Michelle, de Groot, Maartje, Pennings, Rowdy P P, Meijer, Nienke, Verbeek, Bart, van de Warrenburg, Meyke, Schouten, Helger G, Yntema, Lisenka E L M, Vissers, Erik-Jan, Kamsteeg, Christian, Gilissen
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Expansions of a subset of short tandem repeats (STRs) have been implicated in approximately 30 different human genetic disorders. Despite extensive application of exome sequencing (ES) in routine diagnostic genetic testing, STRs are not routinely ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e52314f43d37f9728bed2575052bd61a
https://pubmed.ncbi.nlm.nih.gov/33846582
https://pubmed.ncbi.nlm.nih.gov/33846582