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Agents are autonomous actors that bear some form of responsibility for an activity taking place, for the existence of an entity, or for another agent’s activity.
An agent can be an individual Pers…
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Dear Joelle
We're using Regenie to perform standard gene-level analyses (burden, skato etc) from population-scale WES data.
We'd like to begin exploring testing entire pathways using the same me…
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Creating this ticket to begin collecting requirements and considerations for modeling "Genetic Conditions". This is the name we have given to the concept of "A disease or set of one or more co-occur…
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Starting a new ticket specifically dedicated to the question of whether to lump or split representation of Variant Pathogenicity and Variant Oncogenicity Statement types.
This discussion was start…
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**Is your feature request related to a problem? Please describe.**
This is an improvement to integrate PEDIA into VarFish.
PEDIA is an approach for prioritization of exome data by facial image a…
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Is it possible to use CHM13 as a reference for AnnotSV? Even if current annotations are just lifted from GRCh38 to CHM13 it would be very useful. Thank you!
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I am trying to run tapes using a vep vcf as input. The vep vcf that I am using as input contains the ClinVar significance information in the CLIN_SIG entry which is part of the CSQ INFO field which ha…