Daianna Gonzalez Padilla
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daiannaglez.bsky.social
Daianna Gonzalez Padilla
@daiannaglez.bsky.social
Biostats and Human Genomics 🧬🧮.
BS LCG-UNAM 🇲🇽
Researcher at the MRC Biostatistics Unit, University of Cambridge
Reposted by Daianna Gonzalez Padilla
It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨‍👩‍👦!

www.nature.com/articles/s41...
The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra - Nature Communications
Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...
www.nature.com
May 16, 2025 at 5:37 PM
Reposted by Daianna Gonzalez Padilla
Hey #deconvolution fans! 👀 We’ve got an exciting new publication for you: a benchmark of 6 popular deconvolution methods on a multimodal human brain #DLPFC dataset 🧠🧬
Now out in Genome Biology: doi.org/10.1186/s130...

@lieberinstitute.bsky.social @jhubiostat.bsky.social
Benchmark of cellular deconvolution methods using a multi-assay dataset from postmortem human prefrontal cortex - Genome Biology
Cellular deconvolution of bulk RNA-sequencing data using single cell/nuclei RNA-seq reference data is an important strategy for estimating cell type composition in heterogeneous tissues, such as the h...
doi.org
April 11, 2025 at 2:35 PM