cancervariants / cancervariants/variation-normalization

MNV detection in batches

Open
#35 0 comments 0 reactions 0 assignees View on GitHub
enhancement test case
Dominant language
Python
Stars
15
Forks
2
PR merge metrics
No merged PRs in 30d

Description

From Ana Benet Pages, personal communication:

> Are you aware about the new MNVs gnomAD dataset? Probably yes, but just in case:
> https://www.nature.com/articles/s41467-019-12438-5
>
> All these MNVs were wrong annotated after variant calling. i.e. two single variants instead of a single indel call. Gnomad has identified them and annotated correctly.
>
> Download files from: https://gnomad.broadinstitute.org/downloads#v2-multi-nucleotide-variants
> There are two files. Coding MNVs TSV has MNVs involving two nucleotide positions. Coding MNVs consisting of 3 SNVs TSV has MNVs involving 3 positions. Functional consequence of constituent SNVs and MNVs is also annotated in these files.
>
> I thought this might be a good test dataset for your project?

Contributor guide

No contributing guide indexed for this repository

Assessment

This issue has not been assessed yet.

Get new issues in your inbox

A short digest of beginner-friendly GitHub issues.