Post-doctoral associate in the @gersteinlab at Yale; former grad student in the @girirajanlab at Penn State; interested in genetics of complex human disorders
New Haven, CT
Joined September 2020
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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. @GersteinLab
I'm settling in to my new post-doc position with the @GersteinLab, but I have some exciting news from my graduate work in the @girirajanlab! 1) Our work on rare variants that disrupt expression in complex diseases was published today in Genome Medicine: genomemedicine.biomedcentral…
2) I'll be presenting results from our broader study of rare variant combinations that act as "second-hits" for complex disorders at a platform talk during #ASHG21. Come check out our work on Wednesday at 11AM (session 1161)!
Also check out my talented labmates' posters on the 16p12.1 deletion project at #ASHG21: Corrine Smolen (poster #2852), @lucilla_pizzo (poster #3431), and Anastasia Tyryshkina (#3098). And special thanks to everyone who worked with me on these exciting projects!
Very interesting new work from my grad school labmate @evercuriousVj! This method will allow researchers to look more closely at combinations of rare variants related to disease, instead of just single genes.
I’m very excited that my talented grad student Vijay's @evercurious work is now on @biorxivpreprint. We developed a computational framework for identifying oligogenic etiologies (digenic, trigenic, etc) for complex disorders. 1/n @BioinformPSU @PSUScience
biorxiv.org/content/10.1101/…
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 🤞
Matthew Jensen retweeted
Wonderful experience to have presented my first platform talk at @TheACMG meeting! We showed the relevance of WGS in patients with rare CNVs from our work with @JensenGenetics from @girirajan16 lab at @PSUScience! #ACMGMtg21
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:
Our newest work examines the roles of the variably-expressive 16p12.1 deletion and other rare “second-hit” variants towards gene expression changes and developmental phenotypes using WGS, RNA-Seq of LCL samples, and clinical data from five large families: biorxiv.org/content/10.1101/…
