hgvs
Here are 17 public repositories matching this topic...
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
-
Updated
Oct 23, 2020 - Python
-
Updated
Jan 13, 2021 - Python
Public repository for VariantValidator project
-
Updated
Jan 28, 2021 - Python
Clojure(Script) library for handling HGVS
-
Updated
Apr 25, 2023 - Clojure
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
-
Updated
Aug 4, 2023 - Perl
HGVS variant description parser
-
Updated
Jan 12, 2024 - Python
HgvsGo is a program designed for analyzing "c." and "p." HGVS (Human Genome Variation Society) notations for single nucleotide variations (SNVs) and small insertions/deletions (indels) after variant calling. It serves as an alternative to tools like snpEff and VEP.
-
Updated
Mar 5, 2024 - C++
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
-
Updated
May 17, 2024 - Python
Tool suite for HGVS variant descriptions
-
Updated
May 30, 2024 - Python
Variant translation library for Clojure
-
Updated
Jun 6, 2024 - Clojure
Improve this page
Add a description, image, and links to the hgvs topic page so that developers can more easily learn about it.
Add this topic to your repo
To associate your repository with the hgvs topic, visit your repo's landing page and select "manage topics."