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Streamlining Asymmetry Quantification in Fetal Mouse Imaging: A Semi-Automated Pipeline Supported by Expert Guidance
S M Rolfe1, D Mao2, A M Maga1,2
1Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
Biorxiv : the Preprint Server for Biology
|November 18, 2024
Summary
Researchers developed a new workflow to measure craniofacial asymmetry in mice, identifying four genes linked to developmental disorders. This aids understanding of genetic and environmental factors in disease susceptibility.
Area of Science:
- Developmental Biology
- Genetics
- Medical Imaging
Background:
- Asymmetry is a critical indicator in developmental disorders, often reflecting genetic or environmental disruptions.
- Understanding the genetic basis of asymmetry is crucial for unraveling complex risk factors in developmental disorders.
- Large-scale imaging data presents opportunities and challenges for quantifying morphological differences in developmental studies.
Purpose of the Study:
- To introduce a semi-automated, open-source workflow for quantifying abnormal craniofacial asymmetry.
- To integrate expert anatomical knowledge into phenotyping protocols.
- To explore the genetic underpinnings of abnormal asymmetry using deep phenotyping.
Main Methods:
- Development of a semi-automated, open-source workflow for quantifying craniofacial asymmetry.
- Integration of expert anatomical knowledge into the phenotyping workflow.
- Application of the workflow to deep phenotype 3D fetal microCT images from knockout mouse strains (KOMP2).
Main Results:
- Identification of a novel semi-automated workflow for quantifying craniofacial asymmetry.
- Successful application of the workflow to analyze knockout mouse strains.
- Discovery of four knockout strains (Ccdc186, Acvr2a, Nhlh1, Fam20c) exhibiting significant craniofacial asymmetry.
Conclusions:
- The developed workflow effectively quantifies abnormal craniofacial asymmetry.
- The identified genes (Ccdc186, Acvr2a, Nhlh1, Fam20c) are promising candidates for further research into developmental disorders.
- This approach advances the understanding of genetic contributions to asymmetry and disease susceptibility.
