Margaux Hujoel
@HujoelM
Excited to share the paper: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life. We call it a "ticking DNA clock". cell.com/cell/fulltext/…
Delighted to share that the peer-reviewed version of our study on germline structural variants in pediatric cancers was published yesterday in @ScienceMagazine science.org/doi/epdf/10.11… Thanks as always to the patients, their families, and our funders for enabling this research!
🚨🔊Interested in structural variants? Genome sequencing? Pediatric cancers? Germline variants+cancer risk? Rare variants+rare diseases? If so (or even if not!), I'm delighted to share the first paper from my postdoc @VanAllenLab @DanaFarber: biorxiv.org/content/10.110… 1/12
Excited to kick off 2025 with our latest publication! We've developed TGFM, a new statistical method for identifying the causal tissue and gene underlying GWAS disease loci—providing new insights into the biology behind GWAS signals. nature.com/articles/s4158…
🚨 Our preprint on parent-of-origin effects (POEs) is out! With our new method, we inferred the parental origin of >220,000 individuals, revealing new insights into the genetic architecture of complex traits. 👉 Read here: medrxiv.org/content/10.110… 👇 Highlights below!
I feel honored to be selected as a 2024 #STATWunderkind @statnews . I am extremely grateful for my mentors @broadinstitute @BrighamWomens @HarvardBiostats statnews.com/meet-the-2024-…
In a new, exciting work by @HujoelM et al. dive really deep into the half a million exomes in the UK Biobank and harvest out small CNVs that have been hiding and evading detection by short-read sequencing so far. nature.com/articles/s4158… As always, Po-Ru Loh and team, the…