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In rdcu.be/dXA1e, rayan, Yoann Dufresne and I comment on the decoupling of ‘population’ pangenome graphs from ‘application-specific’ pangenome graphs. (1/3)

Developmental Common Coordinate Framework (DevCCF) for developing mouse brain atlases is out. nature.com/articles/s4146… It features MRI and light-sheet co-registered templates and 3D anatomical labels based on developmental ontology from embryonic to adult ages

📅 Today, October 22, Institut Pasteur will light up its historic buildings in green, the color of Phelan-McDermid syndrome! This genetic syndrome 🧬 is associated with intellectual development disorders, language impairments, and autism.

This Perspective makes a lot of good points, but I continue to be surprised by how little attention is paid to the issues of selection/ascertainment that get compounded when recruiting families. Seems like a looming problem that needs to be addressed *before* data is collected.

I'm excited to announce a tenure track faculty position in conservation genomics in EEB UCLA! We're looking for candidates who use genomic tools to study evolutionary processes related to conservation. Note, the actual application deadline is Nov 29. recruit.apo.ucla.edu/JPF09875

Our integrated human uterus atlas is here : pnas.org/doi/10.1073/pn…! Huge thanks to CZI Science for their support, the incredible work of our trainees, especially Nicole Ulrich, and all our collaborators (Jun Li; Ariella Shikanov; Erica Marsh MD MSCI; Samantha Schon; @Asgi-MSU!

Wonderful to hear the White House military band play Om Jai Jagdeesh Hare for Diwali. Happy Diwali 🪔

LYCEUM, our ancient DNA (aDNA) CNV caller is out! aDNA is noisy and high coverage data is scarce, forbidding the use of ML models. The idea is transfer learning from a model that works on another noisy domain - WES, and then fine tuning with aDNA data. biorxiv.org/content/10.110…

I want to try something new at #ASHG24 this year: I'm going to block some time on Friday afternoon to meet with any trainees who would be interested to chat on any topic.

I am looking for serious applicants who are interested in doing a postdoc in Human #Genetics in my lab. Looking for wet and/or dry lab postdocs. If you are interested, DM me.

Deaminase-assisted Fiber-seq (DAF-seq) has arrived! DAF-seq is an amplification-compatible version of #Fiberseq that resolves genetic and chromatin architectures with single-nucleotide, single-molecule, single-haplotype, and single-cell precision. biorxiv.org/content/10.110…

What a great #ASHG24! Remember that AJHG & Human Genetics and Genomics Advances guarantee peer review for all platform & plenary talks

If you're a #Drosophila researcher using the eye for loss-of-function screening, check out Flynotypter 2.0, which can quantify thousands of eye images to identify morphological defects in ommatidia. Read more from Santhosh Girirajan in November's #G3journal: bit.ly/3Z5vA4a 👀

Thank you American Epilepsy Society #AES2024! I am honored and humbled to be recognized for our gene 🧬 discovery work in #epilepsy 🧠 #RareDisease!

I am excited to share our work in Journal of Molecular Biology, which is our 7th publication on #nuclearreceptors for the 2024 calendar year! Please read on for a summary of all 7 publications from our lab this year, as well as links to the papers.

As it is Black History Month, I am especially excited to share a paper in ACS Bio & Med Chem Au by the Okafor lab at PSU. Dr. Okafor is one of our 2024 Rising Stars in Biological, Medicinal, and Pharmaceutical Chemistry. ACS Publications Bio & Med Chem Content Penn State Eberly College of Science Penn State BMB pubs.acs.org/doi/10.1021/ac…

Grateful to be recognized by @WolfPrize for the composite fermion, and to be in the company of two incredible physicists I greatly admire. The honor truly belongs to my students, collaborators and numerous other researchers whose brilliant work transformed the composite fermion

Our new paper is online today in Cell Genomics “Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer” cell.com/cell-genomics/… #genetics #protein #cancer #neurodevelopmentalDisorder TNTurnerLab WashU Medicine Genetics

A huge thank you to Janine Kwapis Janine Kwapis (she/her) for the kind invitation to deliver a keynote talk at the Penn State University Center for the Molecular Investigation of Neurological Disorders Retreat this week! It was a fantastic visit. Every talk at the retreat was outstanding, the