MAVE-HGVS documentation

MAVE-HGVS is a strict subset of the HGVS sequence variant nomenclature used by MaveDB and related tools to represent protein and DNA variants in Multiplexed Assays of Variant Effect (MAVE) datasets.

This version of MAVE-HGVS is based on HGVS version 20.05.

When citing, please refer to:

1. Esposito, D., Weile J., et al. MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect. Genome Biol 20, 223 (2019). https://doi.org/10.1186/s13059-019-1845-6

2. den Dunnen, J. T. et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat 37, 564–569 (2016). https://doi.org/10.1002/humu.22981

Contents:

• MAVE-HGVS specification
  • Key differences between HGVS and MAVE-HGVS
  • Sequence prefixes and sequence types
  • Equality
  • Substitution
  • Frame Shift
  • Deletion
  • Duplication
  • Insertion
  • Deletion-Insertion
• mavehgvs API documentation
  • Variant objects
  • Utility functions for handling variants
  • Utility functions for regular expression patterns
  • DNA pattern strings
  • RNA pattern strings
  • Protein pattern strings

Indices and tables

• Index

• Module Index

• Search Page