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Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.

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This study proposes a novel nosology for genetic skeletal disorders in ruminants, identifying causal variants through whole-genome sequencing (WGS) and achieving a 64% diagnostic rate. This classification aids in precise diagnosis of bone and cartilage development defects.

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Area of Science:

  • Veterinary Genetics
  • Comparative Genomics
  • Animal Science

Background:

  • Genetic skeletal disorders in ruminants are diverse and often sporadic, with limited identified causal variants.
  • Comprehensive genetic analyses of bovine and ovine skeletal defects are lacking.
  • Understanding these genetic conditions is crucial for animal health and breeding.

Purpose of the Study:

  • To establish a nosology for genetic skeletal disorders in cattle and sheep.
  • To identify novel causative genetic variants in affected ruminants.
  • To contribute genomic data to the classification of these developmental defects.

Main Methods:

  • Literature review to compile existing knowledge and propose a nosology.
  • Whole-genome sequencing (WGS) of affected bovine and ovine cases.
  • Bioinformatic analysis to identify single nucleotide variants (SNVs), small insertions/deletions (indels), and aneuploidies.

Main Results:

  • A nosology encompassing 43 disorders and 45 genes was proposed, including horn traits.
  • Genomic analysis identified 17 candidate variants (11 pathogenic, 6 likely pathogenic) for 12 disorders, and two aneuploidies.
  • The molecular genetic diagnostic rate was 64%, with various inheritance patterns detected.

Conclusions:

  • Genomic analysis highlights significant heterogeneity in genetic skeletal disorders.
  • A proposed nosology offers a framework for precise differential diagnosis in veterinary medicine.
  • WGS is a powerful tool for enhancing genetic disease diagnosis in ruminants.