Haowei Du

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 @CMBCarvalho @GREGoR_research biorxiv.org/content/10.110…

Our HMZDupFinder paper is online! Congrats to co-first authors @zain_dardas & AJ, @LupskiLab members, and all coauthors, @GambinTomasz , @zcoban, #GREGoR_research academic.oup.com/nar/article/do…

Congrats #ASHG23 Early Career Award winner @poseypod !

@CGrochowski @CMBCarvalho @LupskiLab Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures biorxiv.org/content/10.110…

@CluHaowei @LiuPF @CMBCarvalho @LupskiLab @JollyAngad @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

This is what is happening after #ASHG2022

We just passed by the tree on pic3 today :)

#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 @CGrochowski @JollyAngad @LiuPF @CMBCarvalho @LupskiLab rdcu.be/cYqUE

@sedlazeck showing how fast and accurate Sniffles2 can call SVs @nanopore #ASHG22

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

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

@nicholas_navin @darlanminussi @TapsiKS @MDAndersonNews Congrats!!!

I’m so proud of my three graduate students, @darlanminussi @TapsiKS aislyn who graduated this year from the @MDAndersonNews GSBS program in Quantitative Sciences. The future of science is bright!

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

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

Great work with @ryanlayer @aaronquinlan @brent_p 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. @naturemethods @BCM_HGSC nature.com/articles/s4159…

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

@bcmgenetics @CGrochowski @LupskiLab Congrats!

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