Peter M. Taschner

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 9 publications

Mutalyzer 2: next generation HGVS nomenclature checker.

Mutalyzer 2: next generation HGVS nomenclature checker.

Journal: Bioinformatics (Oxford, England)

Published: July 03, 2020

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

Journal: Human mutation

Published: September 08, 2016

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Journal: Cancer research

Published: August 08, 2016

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Journal: Human mutation

Published: December 07, 2015

Human Variome Project Quality Assessment Criteria for Variation Databases.

Human Variome Project Quality Assessment Criteria for Variation Databases.

Journal: Human mutation

Published: November 16, 2015

A germline chromothripsis event stably segregating in 11 individuals through three generations.

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 22, 2015

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

Journal: Bioinformatics (Oxford, England)

Published: February 26, 2015

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Journal: Human mutation

Published: December 10, 2013

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

Journal: BMC bioinformatics

Published: October 14, 2011

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Last Updated: 09/26/2026