Our new paper on the transcriptomic effects of the 16p12.1 deletion is out on bioRxiv today. Working on this project, I learned a lot about different RNA-Sequencing analyses to uncover how rare genetic variants interact with each other in a disease context:

Wonderful experience to have presented my first platform talk at ACMG meeting! We showed the relevance of WGS in patients with rare CNVs from our work with Matthew Jensen from Santhosh Girirajan lab at Penn State Eberly College of Science! #ACMGMtg21

A bit late in this (as I also had to move out of my apt), but I turned in my PhD thesis to my committee last week….less than one week to go until my defense 🤞

Very interesting new work from my grad school labmate Vijay! This method will allow researchers to look more closely at combinations of rare variants related to disease, instead of just single genes.

Excited to be presenting our recent PsychEncode work on population-scale single-cell sequencing of 388 brains at #eshg2024 tomorrow! Come check out my talk at session C22. Gerstein Lab | Yale