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Jacob and me were wondering if some tool exists that does the opposite of genetic correlations, namely identify loci that are specific for a trait. Say you want to compare summary statistics for bipol…
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Hi,
I'm trying to phase rare variants, which goes well for the greatest part. I used the files and instructions you provided in the [documentation](https://odelaneau.github.io/shapeit5/docs/tutoria…
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There are multiple ways of representing the same variant in a VCF file and some formats provide redundant info. We can provide common normalization transforms (e.g. left/right trimming, removing unnec…
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Allow GCI users to see useful VCI information about variants.
When users add in a Variant ID, see if there is a VCI interpretation for the variant. For display of variant, the suggestion is to use …
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Here we consider the types of higher-order **clinical significance** annotations that link 'variants' to 'conditions' to which they might contribute or impact clinical management of, and which we migh…
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Hi, I've run InterVar on a testing data. The variant below was identified as likely pathogenic:
`chr17 41244106 41244106 C - BRCA1 exonic frameshift deletion clinvar:Pathogenic InterVar: …
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### Module Overview
This module aims to find genes predicted to impact a known feature or mechanism of the disease. It requires condition-specific knowledge and access to relevant datasets. The refe…
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Hi all, I am trying to simulate a family data by sim1000G. My genotype input is the UK Biobank genotype which is in binary files. Then I convert it to vcf file (not vcf.gz). Everything works fine exce…
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Term IRI: http://purl.obolibrary.org/obo/PATO_0040003
Definition: The ability of a pathogen to produce an infectious disease or disorder in an another organism. [database_cross_reference: https://orc…
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Dear BiocTeam,
I am investigating the proteome of human cancer samples and want to insert their genetic variations into the reference proteome fasta sequences to increase the sensitivity of my pept…