Guillermo Reales
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greales7.bsky.social
Guillermo Reales
@greales7.bsky.social
Senior scientist @ Genomics. Science, maracatú, cats, and a couple more things. 🇪🇦🇬🇧🇧🇷
Pinned
RapidoPGS 2.3.1 is now available on CRAN 🥳 (cran.r-project.org/web/packages...).
Changes in dependencies were making RapidoPGS multi to fail. This new version should work as expected. Test it out!
RapidoPGS: A Fast and Light Package to Compute Polygenic Risk Scores
Quickly computes polygenic scores from GWAS summary statistics of either case-control or quantitative traits without parameter tuning. Reales,G., Vigorito, E., Kelemen,M., Wallace,C. (2021) &lt;<a hre...
cran.r-project.org
Reposted by Guillermo Reales
I was today years old when I realized that the Chromosome 2 fusion event which is unique to modern humans probably coincides with a possible population bottleneck event ~900kya.

Could the one have caused the other?

This is my adaptation of the published figure

DOI: 10.1126/science.abq7487
May 25, 2025 at 8:10 PM
Reposted by Guillermo Reales
The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene".

But only slightly less well-known is this: consider the colocalized phenotypes.

That is, a genetic variant seldom disrupts exactly one phenotype.

What else does tugging on that thread do?
April 13, 2025 at 6:36 PM
Reposted by Guillermo Reales
I joined Will Dixon and the team at BBC’s Curious Cases to chat about how weather and seasons might influence inflammation and pain. A really fun conversation!

www.bbc.co.uk/sounds/play/...
May 12, 2025 at 5:38 PM
RapidoPGS 2.3.1 is now available on CRAN 🥳 (cran.r-project.org/web/packages...).
Changes in dependencies were making RapidoPGS multi to fail. This new version should work as expected. Test it out!
RapidoPGS: A Fast and Light Package to Compute Polygenic Risk Scores
Quickly computes polygenic scores from GWAS summary statistics of either case-control or quantitative traits without parameter tuning. Reales,G., Vigorito, E., Kelemen,M., Wallace,C. (2021) &lt;<a hre...
cran.r-project.org
February 19, 2025 at 12:22 PM
Here we are, looking forward to 2 days of exciting Genomics! If you're at the event and in need of a Bioinformatician, I'm open for new positions! 😁
January 29, 2025 at 8:36 AM
Hello, world!
November 29, 2024 at 9:36 PM