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In the pre-computed estimates we should remove "risk factor" or " Conflicting classifications of pathogenicity, other, risk factor" or "benign" variants from being included
![image](https://github.…
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Hi Sir, please I have done GWAS using the three genetic variants (SNPs, unitigs and gene presence or absence) and want to locate Intergenic regions, sRNAs and ORF from my GWas. Is there a way to do t…
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Request for two changes in the GCI for genetic data for individuals with autosomal recessive disease inheritance:
(1) Update the text next to the checkbox in the "Individual - Variant(s) and Score(…
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Hi developers,
While performing GWAS using fastGWA within GCTA on our pgen genetic data, some snps are removed (1960 out of 16084709, with sample size=9217). While forcing GCTA not to filter them u…
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Hi @szpiech!
I have a question regarding the use of physical map instead of genetic map when computing iHS. I am using GTEx data to analyze some regions that could be subject to positive selection …
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Need a class that represents disease mutations (genetic variants, mendelian disease mutations, complex disease variants, cancer autosomal and somatic variants) that are mapped to `Position` and `Resid…
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I would propose to retain the GWAS results of genetically-determined methylation PCs, as they could contain interesting information of genetic variants (trans) influencing global methylation. We discu…
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The new strains (i.e., genetic variants) of COVID-19 need to be added to the ontology.
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Issue by @MaxUlysse, moved from SciLifeLab#666
- [ ] [ExpansionHunter](https://github.com/Illumina/ExpansionHunter) for estimating repeat sizes
- [ ] [QDNAseq](https://github.com/ccagc/QDNAseq) CN…