Excited for a major milestone in our efforts to map enhancers and interpret variants in the human genome: The E2G Portal! e2g.stanford.edu This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues. Uses cases 👇 1/

I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:

Really excited to share our new PRS method, developed with @aprilkim.bsky.social and @alexisbattle.bsky.social ! Our approach is to use a lot of recently developed functional annotations to better estimate the weights of the SNPs. www.medrxiv.org/content/10.1...

Happy to share our work characterizing functional rare SVs in rare diseases with long-read genome sequencing and transcriptomic outlier data: genome.cshlp.org/content/earl...

Sharing some of our lecture slides on statistical genetics! 🧬 Co-taught with Mike Epstein, Dave Cutler, Karen Conneely, Jingjing Yang, Jian Hu. Mendelian randomization: weinstocklab.org/lecture_slid... Biobank scale GWAS methods: weinstocklab.org/lecture_slid... Hope they're helpful!

We have multiple postdoc positions available in my group at NYU. Join us if you're interested in complex trait genetics and biology. More information about the lab on our website: mostafavilab.org

Specificity, length, and luck: How genes are prioritized by rare and common variant association studies https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1

Excited to see our study on genetic regulation in heterogeneous differentiating cultures out in final form! www.cell.com/cell-genomics/fulltext/S2666-979X(24)00330-6

I'm developing a pipeline to call CHIP mutations in UK Biobank using the DNA Nexus RAP that is fast/cheap/reproducible. Initial results are promising; calls looks reasonable and cost to do this across all of UKB is likely < 500$. Feel free to DM if of interest.

Great talk from Zeyun Lu on integrating cis-eQTLs with perturb-seq to increase discovery in Mendelian randomization #ASHG2023 !