From b400ffaafa78e0e3b7d39ddeaaeb821fbdb68e82 Mon Sep 17 00:00:00 2001 From: Matt Welland Date: Mon, 29 Apr 2024 14:26:10 +1000 Subject: [PATCH] Add Exomiser 2402 sources (#55) * add Exomiser 2402 sources --- references.py | 14 ++++++++++++++ 1 file changed, 14 insertions(+) diff --git a/references.py b/references.py index c3e9074..52f2d29 100644 --- a/references.py +++ b/references.py @@ -404,6 +404,20 @@ def is_folder(self) -> bool: remm_index='ReMM.v0.3.1.post1.hg38.tsv.gz.tbi', ), ), + Source( + # monarch annotations for running Exomiser 14.X+ + 'exomiser_2402_pheno', + src='https://data.monarchinitiative.org/exomiser/latest/2402_phenotype.zip', + dst='exomiser_2402/phenotype', + transfer_cmd=curl, + ), + Source( + # monarch annotations for running Exomiser 14.X+ + 'exomiser_2402_core', + src='https://data.monarchinitiative.org/exomiser/latest/2402_hg38.zip', + dst='exomiser_2402/core', + transfer_cmd=curl, + ), Source( 'hg38_telomeres_and_centromeres_intervals', # gnomAD v3 hg38 coordinates for telomeres and centromeres converted to interval_list