Proud of being part of team 5 #denovoSV for Baylor Hackathon this weekend! #baylorSV #NCBICODEATHON Great job everyone! Thanks

Thank you Ben Busby Ben Busby!,Fritz Sedlazeck Haowei Du,Elbəy Əliyev,羅鈞軒, @cmdcolin

“We seek to tackle the challenge of finding the cause of currently unexplained #rareGeneticDisorders.” Drs. D Pehlivan, T Mitani, LupskiLab zeynep coban akdemir Jennifer Posey et al AJHG BCM Neurology GREGoR Consortium UTHealth Houston BCMHouston blogs.bcm.edu/2021/11/11/fro…

Join us in congratulating Dr. Christopher Grochowski who successfully defended his thesis today! 🥳 🎉 🙌 #genetics #genomics #PhD @lupskilab Christopher M. Grochowski, PhD

Thanks you to all the mentors, trainees, colleagues and collaborators. I learned all the innovations from you! Thank you ACMG for the recognition!

Great work with ryanlayer Aaron Quinlan brent pedersen to finally revolutionize SV DB & reliable AF estimation! STIX solves the problem of missing SV & ref bias for SV DB. Showcase in #Cancer filtering somatic calls & prioritization. Nature Methods BCM HGSC nature.com/articles/s4159…

Enjoyed talking with the gene therapy group at UTSW today about our work on the genetics of axonopathies (HSP, neuropathies) and neurodevelopmental disorders!

Our new work in Robinow Syndrome has been just published. Great collaboration with Chaofan Zhang at the LupskiLab and Juliana Juliana Mazzeu lab in Brazil.

Great talks, scenery, and camaraderie at Cold Springs Harbor Lab’s Genome Stability & Integrity Symposium! #cshlsymp22

Finally out! ☺️ Interested in #structuralvariation,#inversions, #complexrearrangements, #rarediseases? cell.com/trends/genetic…

Fritz Sedlazeck showing how fast and accurate Sniffles2 can call SVs Oxford Nanopore #ASHG22

#ASHG2022 Please check out our work on MdnCNV phenomenon with long read and short read sequencing technologies, and HPO analysis that is online at Genome Medicine today. Huge thanks to Christopher M. Grochowski, PhD Angad Jolly Pengfei Liu Claudia M Carvalho LupskiLab rdcu.be/cYqUE

We just passed by the tree on pic3 today :)

This is what is happening after #ASHG2022

Haowei Du Pengfei Liu Claudia M Carvalho LupskiLab Angad Jolly @BCMHouston use short and long-read seq to characterize the MdnCNV phenomenon revealing early post-zygotic occurrence, disease-associated genes, and evidence of de novo multilocus pathogenic variation bit.ly/3ND2kKB

Congrats #ASHG23 Early Career Award winner Jennifer Posey !

Our HMZDupFinder paper is online! Congrats to co-first authors Zain Dardas & AJ, LupskiLab members, and all coauthors, Tomasz Gambin , zeynep coban akdemir, #GREGoR_research academic.oup.com/nar/article/do…

Manual inspection of CNVs remains essential for accurate variant interpretation. Check out our latest work, where we integrate multiple evidence sources for CNV interpretation, all in one platform! LupskiLab Claudia M Carvalho GREGoR Consortium biorxiv.org/content/10.110…