Presented at ASHG 2025, this poster outlines how the Mastermind genomic search engine was used to collect 2,177 COL1A1 and COL1A2 genetic variants from 1,506 publications, followed by semiautomated curation with manual expert review to classify variants according to the ACMG/AMP criteria [1,2]. In addition to autosomal dominant OI, Caffey disease, Ehlers-Danlos syndrome, Combine Osteogenesis Imperfecta and Ehlers-Danlos syndrome, and autosomal recessive OI cases were analyzed. Statistical analysis on variant effect, OI subtypes as reported, number of meiosis in families with segregation, and de novo status was performed on a literature cohort of 4,016 COL1A1 and COL1A2 Osteogenesis Imperfecta patients.
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