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exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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TSV_VARIANT outputs only prioritized variants with exomiser gene score > 0 #488

Open saramonzon opened 1 year ago

saramonzon commented 1 year ago

Hi! Thanks for the tool :)

We've just updated exomiser and we've realized that variants outputted in tsv_variant file are filtered (we thing that using the exomiser gene score) and are different from the html output. We'd like that all variants reported in the html are also reported in the tsv file for pipeline downstream purposes. Could that be possible? Are we using some filter we are not aware of?

We attached our yaml config file. exomiser_configfile.yml.txt

julesjacobsen commented 1 year ago

Hi @saramonzon Do you mean that there are no variants reported in the tsv file or that they are not the same variants as in the html file? Also are you trying to use Exomiser as a way of annotating the variants in a gene panel, without taking into account the patient phenotypes?