Mutalyzer 2: next generation HGVS nomenclature checker.

Area of Science:

• Genetics
• Bioinformatics
• Clinical Diagnostics

Background:

• Accurate genetic variant description is crucial for clinical diagnostics, scientific literature, and databases.
• The Human Genome Variation Society (HGVS) provides guidelines for standardized variant nomenclature.
• Manual application of HGVS guidelines can be complex and error-prone.

Purpose of the Study:

• To present the Mutalyzer 2 tool suite for automated application of HGVS guidelines.
• To simplify the process of checking and correcting genetic variant descriptions for users.
• To improve the accuracy and consistency of variant reporting in genetics.

Main Methods:

• Implementation of the Mutalyzer 2 tool suite.
• Automated application of Human Genome Variation Society (HGVS) variant description guidelines.
• Processing and analysis of genetic variant descriptions submitted by users.

Main Results:

• Mutalyzer has processed over 133 million variant descriptions.
• Approximately 50% of submitted variant descriptions were correct.
• Syntactic or semantic errors were identified in 41% of cases, with automatic correction achieved in ~7%.

Conclusions:

• Mutalyzer 2 effectively automates the application of HGVS guidelines.
• The tool assists users in generating unambiguous variant descriptions, reducing errors.
• Mutalyzer 2 is an Open Source tool available on GitHub with a running instance at mutalyzer.nl.