A structure-aware framework for genomic variant interpretation in genetic skeletal disorders
Serena G. Piticchio, Najla Hosseini, Giedré Grigelioniené, Laura Orellana
This paper presents a structure-aware framework for interpreting genomic variants in genetic skeletal disorders by integrating structural data and variant annotations.
bioRxiv · Mar 17, 2026 · PreprintGenomics