Excited to share our review on the use of Drosophila and zebrafish models for dissecting CNV pathogenicity - now published in Current Opinion in Genetics & Development. Tanzeen Yusuff Georgios Kellaris and Nicholas Katsanis sciencedirect.com/science/articl…

Really excited that our fly/Xenopus paper on testing the "two-hit" model for 16p12.1 del is published PLOS Genetics. Thanks to all authors including 6 undergraduate students from Penn State Eberly College of Science Penn State BMB for hard work. journals.plos.org/plosgenetics/a…

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

Our recent paper on the two hit model and 16p12.1 deletion was featured by Penn State Eberly College of Science today! news.psu.edu/story/656069/2…

A new study led by Eberly researchers Santhosh Girirajan and Lucilla Pizzo shows how a genetic deletion linked to neurodevelopmental disorders could sensitize the genome such that mutations in other regions may interact with the deletion to exacerbate symptoms. buff.ly/3xuKL7g

Registration is open for my Statistical Horizons livestream course, "Introduction to Statistical Genetics". If you want to learn stat gen essentials (eg, GWAS, polygenic scores, data viz, GxE) & apply them to behavioral research, consider this course. statisticalhorizons.com/seminars/intro…

Please RT! Multiple postdoctoral positions to study iPSC, Drosophila, and mouse models of neurodevelopmental disorders are available my lab (funded by NIH) (autism.bx.psu.edu). Link to my papers - pubmed.ncbi.nlm.nih.gov/?term=Giriraja… Please DM me for details.

Registration is open for my Statistical Horizons livestream course, "Introduction to Statistical Genetics". If you want to learn stat gen essentials (eg, GWAS, polygenic scores, data viz, GxE) & apply them to behavioral research, consider this course! statisticalhorizons.com/seminars/intro…

Mentorship matters. Thank you Santhosh Girirajan! Thank you Erica Andersen, @YuanJi1, Cinthya Zepeda (she/her), Hunter Best, Rong Mao, Bo Hong!! #DEI #MedicalGeneticsAwareness A CREATIVE MUSIC GROUP ARUP Laboratories

Ethnicity ≠ genetic ancestry

It’s not just seeing suffering that's painful. It’s hurting for others while feeling unable to help. There’s a term for that helplessness: empathic distress. Over time, it leads to burnout and withdrawal. If you're overwhelmed and exhausted by a heavy heart, you are not alone.

The #gnomAD v3 papers are now published! This includes the non-coding constraint paper (broad.io/gnomAD_v3_non_…) & inferring compound heterozygosity paper (broad.io/gnomAD_v3_comp…). Congratulations to everyone who contributed to this valuable work! (1/2)

We are delighted to publish guidance for applying segregation (PP1 & BS4) and phenotype specificity (PP4) evidence to variant classification - both important approaches to implicate the variant's locus in disease. Special thanks to Les and the whole team! authors.elsevier.com/sd/article/S00…

Happiness is not about reaching your goals. It's about aligning your goals with your values. Progress without purpose is empty. Achievement without impact is fleeting. Success is most rewarding when it serves the people and principles that matter to you.

Our latest, livin' the dream, synthetic shuffling of mammalian genomes, conceived+executed by the incredibly creative Sudarshan Pinglay (thread below). Paving path to MPRAs of scrambled genomes 😀 See also amazing parallel work by Jonas Koeppel @LeopoldParts Raphael Ferreira george church

Excited to share this discovery: 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, acquiring toxicity only when quite long (>150 CAGs). biorxiv.org/content/10.110…

A tour de force study on biological aging of 9 organs through genomic variants from over 377,000 UK Biobank participants Predominant organ-specific variants but much organ crosstalk pointing to causal relationships (no organ system is an island) nature.com/articles/s4358…

The most important reason to treat people well is not what you'll get in return. It's who you hope to become. Kindness is not about reciprocity or karma. It's about character. Civility doesn't need to be justified with consequences. Respecting others is the right thing to do.