Today is International 9p Minus Awareness Day 💙 Raising awareness and celebrating the incredible 9p Minus community. #9pMinus #9pMinusAwarenessDay @TNTurnerLab @WashUGenetics

🎉 The @TNTurnerLab is 7! It is hard to believe it has been seven years since I started the @TNTurnerLab @WashUGenetics. I have been thinking about how much can happen in seven years, and how different a lab can become from what you imagined at the beginning. We started with questions about neurodevelopmental disorders and how we could use new genomic approaches to understand variation that had been difficult to study. Along the way, we developed new computational tools, expanded our work across coding and noncoding variation, began our work on chromosome 9p syndromes, and followed many questions that I could not have anticipated when the lab started. One of the most remarkable parts has been seeing where genomic discovery can lead. In one example, a gene discovery from our work ultimately helped identify a treatment for two individuals with a rare developmental and epileptic encephalopathy. To see a discovery that began with the genome make its way to something that directly improved the lives of individuals and their family is the kind of impact I hoped our science could have when I started the lab. What I appreciate most, though, is how many people have shaped this journey. Trainees have brought their own ideas, curiosity, and talents to the lab and have taken our science in directions I never could have taken alone. It has been incredibly rewarding to watch them grow, make discoveries, and move on to their next chapters. Our 9p work has been especially meaningful to me. What began as a new direction in the lab has grown through the efforts of our trainees, an incredible group of collaborators, and the individuals and families who have participated in and partnered with our research. That is probably what these seven years have taught me most about building a lab. The science grows with the people who become part of it. I am incredibly grateful to every trainee, alum, collaborator, individual, and family who has been part of the @TNTurnerLab and helped shape what it is today. Happy 7 years, @TNTurnerLab! ❤️🧬🔬 If you would like to help support the next chapter of our research, you can support the lab here: wustl.advancementform.com/ca…)

New opportunities in the @TNTurnerLab: • Postdoctoral Fellow - 9p-Related Syndromes (now recruiting) • Computational Genomics of Autism - postdoc opening coming soon • Neuroscience / Enhancer Biology - postdoc opening coming soon
 • Graduate student research opportunities • Undergraduate research opportunities Details and current openings are available on our Employment page (turnerlab.wustl.edu/employme…). #Postdoc #Genomics #HumanGenetics #AutismResearch #Neuroscience #Bioinformatics #9P #PrecisionGenomics #GenomicConfigurations

The Turner Lab in the Department of Genetics at Washington University in St. Louis is recruiting a Postdoctoral Research Associate to work on chromosome 9p deletion and duplication syndromes. If you know someone who may be interested, I would appreciate you sharing this opportunity. Position details and application: wustl.wd1.myworkdayjobs.com/… #9p #genomics #genetics

Excited to share a new paper on sex-aware genome-wide assessment of de novo variants (DNVs) in autism. Analyzed >41,000 parent-child trios using newly developed tools (HAT-FLEX and SNOW) to generate a high-confidence DNV callset across autosomes, X, Y, and PAR regions. Find support for the female protective effect, identify sex-specific patterns of coding DNV enrichment, and implicate the noncoding RNA gene RNU2-2 in ASD risk. The complete DNV callset and extensive supplementary analyses are available in the Supplement to the paper. Paper: link.springer.com/article/10… #genomics #genetics #denovo #autism @WashUGenetics

Outreach note from @TNTurnerLab. One part of our research work since joining the faculty at @WashUGenetics has been building new and original genomics software out of necessity. Over ~7 years, driven by our interests in my research area of neurodevelopmental disorders, we have developed a steady stream of state of the art new original tools, and some now also apply to other phenotypes. Encouraged by other research scientists and to make this work more accessible for the community, I am releasing our first white paper: CNPI (zenodo.org/records/18842151) #GenomicsWhitePapers #genomics #computation #bioinformatics

Video from the “ASHG 2025 Data Discovery Exchange, hosted by Kids First and INCLUDE” youtube.com/watch?v=g67zslSg… @kidsfirstDRC @TNTurnerLab @WashUGenetics #genomics #genetics #denovo

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Excited to share our new paper in @BiologyOpen: “Generation and characterization of a knockout mouse of an enhancer of EBF3.” This collaborative project spans model generation, multi-omic characterization, and community release. 🧬🐭
@WashUGenetics @jacksonlab journals.biologists.com/bio/…

HAT-FLEX is a caller-agnostic, drop-in trio DNV detection tool that operates directly on existing VCFs. It introduces allele-level intersection, sex/PAR-aware logic, clustering, comprehensive audit outputs, and streamlined operations. HAT-FLEX supports both trio-level and large multi-sample VCFs, producing tidy, per-child outputs with full provenance. Developed in response to user feedback from HAT, HAT-FLEX enables use of existing VCFs, can extend to non-human species with diploid genomes, improves performance, increases configurability, and provides robust handling of sex chromosomes (X/Y). If you have feedback, please email or DM me. Thanks. github.com/TNTurnerLab/HAT-F… #genetics #genomics #denovo

1/ WashU research news; excited to share our new paper on Chromosome 9p Syndromes 🧬 Hope you take the time to read it. Here is the link: link.springer.com/article/10… @WashUGenetics @washumedicine @GenomeInstitute @WashUMedPeds @washu_pathology @WashUNeurology @WashUNeurosurg @Coriell_Science @jacksonlab @illumina @WashUanesthesia @MedGenomeLabs @BCMFromtheLabs @BCM_HGSC @SickKidsNews @9p_minus #genetics #genomics #9p #deletion #duplication #translocation #structuralVariant #cnv #sv

❤️ link.springer.com/10.1186/s1…

Thank you to Dr. Evan Eichler for visiting #WashU and presenting in our Department of Genetics seminar series. An inspiring talk from one of my academic fathers! @WashUGenetics #genetics #genomics

Looking forward to #ASHG25 with @TNTurnerLab this week! 🚨 Late-Breaking Poster Session: (yes, it is 7 feet wide × 3 feet high!) Date/Time: 🗓️ Oct 16 | 2:30-4:30pm Board 2009T: Whole-Genome Sequencing Uncovers New Insights into Chromosome 9p Syndromes Presenter: Tychele Turner, Ph.D. (first author Isabelle Wang will also be joining me 🙂) 🧬 Omics Technologies Poster Session: Date/Time: 🗓️ Oct 15 | 2:30-4:30pm Board 4016W: CNPI - a Computational Toolkit for Rapid Copy Number Analysis of Whole-Genome Sequencing Data Presenter: Sydney Collins, Turner Lab Date/Time: 🗓️ Oct 15 | 2:30-4:30pm Board 4029W: A Multiplatform, High-Throughput De Novo Variant Caller Run on Over 50,000 Phenotypically Heterogeneous Trios Presenter: Jeffrey Ng, Turner Lab @GeneticsSociety @WashUGenetics

🐭This week the strain detail sheet for the enhancer knockout mouse we describe in doi.org/10.1101/2025.01.09.6… became available at the MMRRC mmrrc.org/catalog/sds.php?mm…. Please check it out if you are interested in ordering the mice. #noncoding #enhancer #ebf3 #genomics #genetics @TNTurnerLab @WashUGenetics 🐭