-
From https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM16193&product=CC
> donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (122…
-
ADO has added several object properties which are problematic.
OWLObjectProperty_00000000000000000000 isTreatmentFor is used as relation between the general class 'treatment' and 'Alzheimer's disease…
-
The current definition of 'variant collection' in SO is “a sequence collection comprised of one or more sequences of an individual”.
A. It is not clear what is meant by ‘of an individual’ . . . this s…
-
**Is your feature request related to a problem? Please describe.**
Currently we provide the most relevant papers from PubTator based only on searched variant itself. However, sometimes it might b…
-
Dear BHR team,
Thanks for previously helping diagnose the issue regarding burden correlation function! Now I met a new issue when analyzing the heritability of my traits.
As mentioned in the pap…
-
...at least for candidate genes manually specified by name only; priority/evidence as in "5 star rating" or "not specified"/"little evidence"/"strong evidence" or [0..1] score
-
# How to Sync Data for this module
The following steps are needed to make your data loaded by the [genotypes loader](https://github.com/UofS-Pulse-Binfo/genotypes_loader) available to this module. …
-
This is an example from drprg, Michael's data. Pandora discover and map output here: `/hps/nobackup/iqbal/mbhall/drprg/paper/results/amr_predictions/drprg/illumina/PRJNA436454/SAMN08626350/SRR6824314`…
-
-
**Context**
NS-Forest algorithm identifies minimal combinations of marker genes that can accurately classify and define cell types from single-cell RNA sequencing datasets. We need a design pattern t…