Analyze Publications Database

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Claudia Gonzaga-Jauregui et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. European Journal of Human Genetics.

Publication Date
May 6, 2020

How Analyze was Used
“Following scanning, image processing steps were undertaken. Bone mineral density (BMD) and bone mineral content (BMC) were calculated from the µCT scanned image data using Analyze software package (AnalyzeDirect, Overland Park, KS, USA). BMC was calculated as BMD × Bone volume (mm3) × 1000. Volex gray intensities of the reconstructed images were transformed to linear Hounsfield units or linear attenuation coefficient, the scale is based on the data from images of the calibrating phantom, where air is −1000 HU and water 0 HU. Image segmentation was performed semiautomatically using the Volume Edit tools within the Analyze software package (AnalyzeDirect, Overland Park, KS, USA). Briefly, segmentation masks (object maps) were created using a combination of semiautomatic and manual techniques (object extraction, region growing, and thresholding tools). These segmentation results were then manually modified if necessary and quantified using the ROI tools.”

Keywords
Steel syndrome, Osteochondrodysplasia, Founder allele, Clan genomics

Author Affiliation(s)
Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA

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