Our newest collab paper showing an interplay between common regulatory SNVs and rare coding variants in SHROOM3 in Craniofacial Microsomia is now online ahead of print @genomeresearch.bsky.social: pubmed.ncbi.nlm.nih.gov/40234029/. Huge shoutout to Yong-Biao Zhang’s team again.
As always, very happy to have been able to contribute to another great story led by @kaustubhad.bsky.social and Andres Ruiz-Linares.
Our cool collaborative manuscript reporting haplotype of common variants impacting presentation associated with rare variants. Did reporter assays for 2 SNPs (of 30) in the LD block as they mapped within putative enhancers. Reviewer wants all other 28 tested as “shouldn’t take much effort”. Really?
Hey friends! Little Fai’a and her family are SO close to reaching their goal of $45K to get her cleft lip surgery and out of Gaza.
Please consider donating any amount you can — what you’d spend on coffee or takeout or an impulse buy? Use it for good here ❤️❤️❤️
www.gofundme.com/f/e94a7-medi...
