Skip to content

Commit

Permalink
Update README.md
Browse files Browse the repository at this point in the history
  • Loading branch information
KalinNonchev authored Nov 4, 2023
1 parent 01ef68a commit f8a5b59
Showing 1 changed file with 1 addition and 1 deletion.
2 changes: 1 addition & 1 deletion README.md
Original file line number Diff line number Diff line change
Expand Up @@ -23,7 +23,7 @@

[The Genome Aggregation Database (gnomAD)](https://gnomad.broadinstitute.org) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.

This package scales the huge gnomAD files (on average ~120G/chrom) to a SQLite database with a size of 34G for WGS v2.1.1 (261.942.336 variants) and 98G for WGS v3.1.2 (about 759.302.267 variants), and allows scientists to look for various variant annotations present in gnomAD (i.e. Allele Count, Depth, Minor Allele Frequency, etc. - [here](https://github.com/KalinNonchev/gnomAD_DB/blob/master/gnomad_db/pkgdata/gnomad_columns.yaml) you can find all selected features given the genome version). (A query containing 300.000 variants takes ~40s.)
This package scales the huge gnomAD files (on average ~120G/chrom) to a SQLite database with a size of <100G and allows scientists to look for various variant annotations present in gnomAD (i.e. Allele Count, Depth, Minor Allele Frequency, etc. - [here](https://github.com/KalinNonchev/gnomAD_DB/blob/master/gnomad_db/pkgdata/gnomad_columns.yaml) you can find all selected features given the genome version). (A query containing 300.000 variants takes ~40s.)

It extracts from a gnomAD vcf about 23 variant annotations. You can find further information about the exact fields [here](https://github.com/KalinNonchev/gnomAD_DB/blob/master/gnomad_db/pkgdata/gnomad_columns.yaml).

Expand Down

0 comments on commit f8a5b59

Please sign in to comment.