Excited to share a new paper on sex-aware genome-wide assessment of de novo variants (DNVs) in autism. The complete DNV callset and supplementary analyses are available in the Supplement to the paper.
link.springer.com/article/10.1...
#genomics #genetics #denovo #autism @washugenetics.bsky.social
❄️ Introducing SNOW - the Second-pass de Novo variant Offspring Workflow. A Python toolkit for cleaning, merging, phasing, and annotating de novo variants from trio sequencing data for QC and downstream analysis ☃️
github.com/tycheleturne...
#genomics #bioinformatics #denovo
"A novel homecage operant paradigm reveals circadian and behavioral dynamics of social motivation in mice" www.biorxiv.org/content/10.1...
"Sex Limited Inheritance in Drosophila" #classic #genetics
www.jstor.org/stable/1635471
WashU Rare Disease Day was wonderful today. Stephanie Snow-Gebel gave my favorite talk, and this quote really stuck with me: “Awareness is not vanity. It’s velocity!” 🔥
@rarediseaseday.bsky.social
@pattidickson.bsky.social
#SnowFoundation
Outreach from @TNTurnerLab @washugenetics.bsky.social: We have built new state of the art #genomics software out of necessity for current research on neurodevelopmental disorders, and it’s proving useful beyond NDDs. First white paper out today: CNPI (zenodo.org/records/1884...) #GenomicsWhitePapers
"Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)"
www.cell.com/ajhg/fulltex...
The faster you can analyze data, the faster discovery follows.
New tools from The Turner Lab, led by tycheleturner at #WashU, are on #CAVATICA. Streamline how researchers analyze #KidsFirstData and help them turn discovery into insight faster.
Explore how: https://monkeylink.co/7b09d7
@tycheleturner.bsky.social and the Turner lab were recently highlighted by the Gabriella Miller Kids First Data Resource Center kidsfirstdrc.bsky.social for developing CAVATICA genomic analysis tools that streamline the path from Kids First data access to analysis.
kidsfirstdrc.org/turner-lab-t...
Second-pass de Novo variant Offspring Workflow. Contribute to tycheleturner/snow development by creating an account on GitHub.
github.com
Human Genomics - Autism spectrum disorder (ASD) shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. I analyzed DNVs...
Age-related hearing loss (presbycusis) is a significant problem in the population.
The genetic contribution to age-related hearing loss is estimated to be 40%–50%. Gene
mutations that cause nonsyndrom...
The Gabriella Miller Kids First Data Resource Center (Kids First DRC) is a collaborative pediatric research effort with a goal to understand the genetic causes and links between childhood cancer and c...
