You signed in with another tab or window. Reload to refresh your session.You signed out in another tab or window. Reload to refresh your session.You switched accounts on another tab or window. Reload to refresh your session.Dismiss alert
@@ -31,15 +32,23 @@ See below for information on usage and local installation.
31
32
32
33
Annotation databases for GENCODE Release 38 (released 5/5/21) can be downloaded from: https://www.dropbox.com/sh/6zo0aegoalvgd9f/AADWN_cGIWpvVN9BYJ37vGmZa?dl=0
33
34
*`gencode.v38.annotation.db`: GENCODE gene annotations for GRCh38 for transcripts with the Ensembl_canonical tag
* `gencode.v38lift37.annotation.db`: GENCODE gene annotations for GRCh38 (lifted to GRCh37) for transcripts with the Ensembl_canonical, appris_principal, appris_candidate, or appris_candidate_longest tags
2. Run Pangolin on a VCF or CSV file containing a list of variants. Under default settings, the maximum increase and decrease in score within 50 bases of the variant, along with their positions, will be reported. Format in the output file: `gene|pos:largest_increase|pos:largest_decrease|`
45
+
2. Run Pangolin on a VCF or CSV file containing a list of variants. Under default settings, the maximum increase and decrease in score within 50 bases of the variant, along with their positions, will be reported. Format in the output file: `gene|pos:largest_increase|pos:largest_decrease|`
37
46
* Only substitutions and simple insertions/deletions (either the REF or ALT field is a single base) are currently supported.
38
47
* Variants are skipped if: they are not contained in a gene, defined by the annotation file; are within 5000 bases of the chromosome ends; are deletions larger than twice the input parameter -d; or do not match sequences from the reference FASTA file.
0 commit comments