Peter EM Taschner, Ph.D.
LEIDEN, P.O. Box 9600,
2300RC LEIDEN, Nederland.
Tel: +31-71-526 9424,
Fax: +31-71-526 8285,

Email: P.Taschner@lumc.nl

Peter Taschner is a molecular biologist who received his PhD from the University of Amsterdam (Nederland). He is currently employed as Research Scientist in the Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Nederland, where he heads the Bioinformatics support group of the Department of Human Genetics.

Peter has been involved in the identification of the genes for juvenile neuronal ceroid lipofuscinosis (CLN3) and hereditary paraganglioma (SDHD). He has developed worm and mouse models to study the molecular basis of these disorders. Currently, he participates in the development of the next version of the locus-specific sequence variation database package called LOVD (1), which has been used to set up the TCA cycle gene mutation database. Although the Human Genome Variation Society (HGVS) has set rules for the unequivocal description of sequence changes (mutation nomenclature), achieving correct descriptions of sequence variations can be complex and error-prone. As a potential solution, Peter and co-workers have developed the Mutalyzer sequence variation nomenclature checker (www.humgen.nl/mutalyzer) as the first module of a package for sequence variation effect prediction (2).

1. Fokkema IFAC, den Dunnen JT, Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach. Hum Mutat 26: 63-68.
2. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM (2008). Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29: 6-13.