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PGScatalog
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pgsc_calc
The Polygenic Score Catalog Calculator is a nextflow pipeline for polygenic score calculation
https://pgsc-calc.readthedocs.io/en/latest/
Apache License 2.0
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Improvements to PCA steps & default reference panel
#133
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smlmbrt
opened
1 year ago
smlmbrt
commented
1 year ago
Ideas for making PCA projections more robust
[ ] Subsetting to a smaller set of PCA eligible variants?
HapMap3 (same as
bigsnpr
)
Ancestry informative markers (similar to Hao et al.), such as those in doi:10.3389/fgene.2012.00322
[x] Avoid variants with high missingness in target dataset (use .vmiss files)
Implemented in beta release
[ ] Add back OCE samples to reference panel, but exclude from empirical calculation of Z-scores due to low number of individuals for comparison.
smlmbrt
commented
6 months ago
Previously implemented:
Merged 1000 Genomes & Human Genome Diversity Project (HGDP):
ref:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900804/
data:
https://gnomad.broadinstitute.org/news/2020-10-gnomad-v3-1-new-content-methods-annotations-and-data-availability/#the-gnomad-hgdp-and-1000-genomes-callset
Ideas for making PCA projections more robust
bigsnpr
)