Peter E.M. Taschner - Researcher Profile

Publications

2 shown

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen , Raymond Dalgleish , Donna Maglott +7 more

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics criti...

2016 Human Mutation 1593 citations

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Raymond Dalgleish , Paul Flicek , Fiona Cunningham +16 more

As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disea...

2010 Genome Medicine 114 citations

Frequent Co-Authors

Researcher Info

h-index: 2
Publications: 2
Citations: 1,707
Institution: University of Applied Sciences Leiden

External Links

ORCID Profile Google Scholar

Identifiers

ORCID: 0000-0001-9621-465X

Impact Metrics

h-index 2

h-index: Number of publications with at least h citations each.