Survival in Patients with Uveal Melanoma Is Linked to Genetic Variation at HERC2 Single Nucleotide Polymorphism rs12913832.

Autor: Gelmi MC; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Houtzagers LE; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Wierenga APA; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Versluis M; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Heijmans BT; Molecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands., Luyten GPM; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., de Knijff P; Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Te Raa M; Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., de Leeuw RH; Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Jager MJ; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: m.j.jager@lumc.nl.

Publikováno v: Ophthalmology [Ophthalmology] 2024 Sep 07. Date of Electronic Publication: 2024 Sep 07.

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Autor: Arindrarto W; Center for Computational Biology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Borràs DM; GenomeScan B.V, 2333 BZ, Leiden, The Netherlands.; Department of Chemical Cell Biology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., de Groen RAL; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van den Berg RR; Department of Human Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Locher IJ; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van Diessen SAME; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van der Holst R; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van der Meijden ED; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Honders MW; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., de Leeuw RH; Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Verlaat W; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Jedema I; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Kroes WGM; Department of Clinical Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van Wezel T; Department of Pathology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Vermaat JSP; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Valk PJM; Department of Hematology, Erasmus University Medical Center, 3015CN, Rotterdam, The Netherlands., Janssen B; GenomeScan B.V, 2333 BZ, Leiden, The Netherlands., de Knijff P; Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van Bergen CAM; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., van den Akker EB; Center for Computational Biology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands.; The Delft Bioinformatics Lab, Delft University of Technology, 2628CD, Delft, The Netherlands.; Section of Molecular Epidemiology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Hoen PAC'; Department of Human Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands., Kiełbasa SM; Center for Computational Biology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Laros JFJ; Department of Human Genetics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands., Griffioen M; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands. M.Griffioen@lumc.nl., Veelken H; Department of Hematology, Leiden University Medical Center, 2300RC, Leiden, The Netherlands.

Publikováno v: Leukemia [Leukemia] 2021 Jan; Vol. 35 (1), pp. 47-61. Date of Electronic Publication: 2020 Mar 03.

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.

Autor: de Leeuw RH; Department of Human Genetics, Leiden University Medical Centre, Nijmegen, The Netherlands., Garnier D; Department of Human Genetics, Leiden University Medical Centre, Nijmegen, The Netherlands., Kroon RMJM; Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands., Horlings CGC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., de Meijer E; Department of Human Genetics, Leiden University Medical Centre, Nijmegen, The Netherlands., Buermans H; Department of Human Genetics, Leiden University Medical Centre, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., de Knijff P; Department of Human Genetics, Leiden University Medical Centre, Nijmegen, The Netherlands., Raz V; Department of Human Genetics, Leiden University Medical Centre, Nijmegen, The Netherlands. v.raz@lumc.nl.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Mar; Vol. 27 (3), pp. 400-407. Date of Electronic Publication: 2018 Nov 19.

FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise.

Autor: Hoogenboom J; Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands; Division Biological Traces, Netherlands Forensic Institute, Laan van Ypenburg 6, 2497 GB, The Hague, The Netherlands. Electronic address: j.hoogenboom@nfi.minvenj.nl., van der Gaag KJ; Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands; Division Biological Traces, Netherlands Forensic Institute, Laan van Ypenburg 6, 2497 GB, The Hague, The Netherlands. Electronic address: k.van.der.gaag@nfi.minvenj.nl., de Leeuw RH; Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands. Electronic address: r.h.de_leeuw@lumc.nl., Sijen T; Division Biological Traces, Netherlands Forensic Institute, Laan van Ypenburg 6, 2497 GB, The Hague, The Netherlands. Electronic address: t.sijen@nfi.minvenj.nl., de Knijff P; Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands. Electronic address: p.de_knijff@lumc.nl., Laros JF; Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands. Electronic address: j.f.j.laros@lumc.nl.

Publikováno v: Forensic science international. Genetics [Forensic Sci Int Genet] 2017 Mar; Vol. 27, pp. 27-40. Date of Electronic Publication: 2016 Nov 27.

TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.

Autor: Anvar SY; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The NetherlandsDepartment of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., van der Gaag KJ; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., van der Heijden JW; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., Veltrop MH; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., Vossen RH; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., de Leeuw RH; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., Breukel C; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., Buermans HP; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The NetherlandsDepartment of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., Verbeek JS; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., de Knijff P; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., den Dunnen JT; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The NetherlandsDepartment of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands., Laros JF; Department of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The NetherlandsDepartment of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The NetherlandsDepartment of Human Genetic, Leiden Genome Technology Center, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands and Netherlands Bioinformatics Centre, Leiden, The Netherlands.

Publikováno v: Bioinformatics (Oxford, England) [Bioinformatics] 2014 Jun 15; Vol. 30 (12), pp. 1651-9. Date of Electronic Publication: 2014 Feb 13.