A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature
Summary: Biological sequence variants are commonly represented in scientific literature, clinical reports and databases of variation using the mutation nomenclature guidelines endorsed by the Human Genome Variation Society (HGVS). Despite the widespread use of the standard, no freely available and c...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Oxford University Press
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287946/ |