Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Handle false duplications in GRCh38 #147

Closed
2 tasks done
marc-sturm opened this issue Aug 11, 2022 · 1 comment
Closed
2 tasks done

Handle false duplications in GRCh38 #147

marc-sturm opened this issue Aug 11, 2022 · 1 comment
Assignees

Comments

@marc-sturm
Copy link
Member

marc-sturm commented Aug 11, 2022

1.3 MB of the GRCh38 reference was identified as falsely duplicated, including some medically relevant genes:
See paper https://www.nature.com/articles/s41587-021-01158-1

Masking file: https://ftp.ncbi.nlm.nih.gov/genomes/all/GCA/000/001/405/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids/GCA_000001405.15_GRCh38_GRC_exclusions.bed

Command: bedtools/maskFastaFromBed -fi GCA_000001405.15_GRCh38_no_alt_analysis_set.fasta -bed GCA_000001405.15_GRCh38_GRC_exclusions_T2Tv2.bed -fo GCA_000001405.15_GRCh38_no_alt_analysis_set_maskedGRC_exclusions.fasta.

TODO:

  • Add masking to genome download
  • Redo analysis and compare variants (small variants, CNVs, SVs)
@marc-sturm marc-sturm changed the title Handle 6MB duplication on chr21 Handle false duplications in GRCh38 Sep 7, 2022
@marc-sturm marc-sturm self-assigned this Sep 12, 2022
@marc-sturm
Copy link
Member Author

Implemented in 250fb24

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant