deepgenomics / deepgenomics/GenomeKit
Support structural variants
Open
- Dominant language
- Python
- Stars
- 63
- Forks
- 11
- Avg merge
- 1h 1m
- Merged PRs (30d)
- 2
Description
Currently small variants are supported as gk.Variant(chrom, position, position, ref, alt, reference_genome).
There are large variants in the human genome (i.e. thousands of bps):
* Copy number variants
* Deletions
* Insertions
* Translocations (this might be the trickiest since it's inter-chromosomal)
* Inversions on the same chromosome
It would be great to support these types of variants and be able to call genome.dna(interval) - but I realize this would be very difficult in terms of coordinates.
requested by @helen-zhu
Contributor guide
No contributing guide indexed for this repository
Assessment
This issue has not been assessed yet.