3
votes
How can I detect the Apo B gene mutations in my raw dna data?
I think you mean these. The amino acid numbering has changed, but that happens as we discover more transcript variants.
http://useast.ensembl.org/Homo_sapiens/Variation/Mappings?db=core;r=2:21005788-...
- 1,925
2
votes
Getting VCF file that contain common SNPs from 6 VCF file using isec
You've used the right tool and gotten the right results. What you need to understand is that VCF contains variant loci as well as the genotypes for >=1 sample(s) at those loci. The intersect ...
- 2,311
2
votes
How can I detect the Apo B gene mutations in my raw dna data?
If you are interested in ApoB gene variants you can:
go to https://www.ensembl.org/Homo_sapiens/Gene/Variation_Gene/Table?db=core;g=ENSG00000084674;r=2:21001429-21044073
sort the table by Clin.Sig. ...
- 328
1
vote
Why does my HWE QQ plot have extreme deviation and what does it mean?
This much deviation from the expected distribution looks like a modeling issue, i.e. that the statistical model use to represent the null hypothesis is incorrect.
I can't see any values that lie along ...
- 14.1k
1
vote
When it is stated in your consumer genetics testing report that you have x% (lets say 1.3 percent...) Neanderthal DNA, what is actually meant?
How do they obtain these markers for Neanderthal ancestry to begin with? I know the Neanderthal genome has been sequenced from bone fragments
Since ancient nuclear DNA is scarce, enough preserved ...
- 11
1
vote
Loss of predictive power of polygenic risk score when dataset contains missing variants
In a sample with all 40, determine the accuracy of the PRS. Then in the same sample, remove the 20 you are missing in the other set, and then determine the accuracy with the missing variants. This ...
- 543
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