Developing a scoring system for gene curation prioritization in lysosomal diseases.
Matheus Vernet Machado Bressan WilkeJennifer GoldsteinEmily GroopmanShruthi MohanAmber WaddellRaquel FernandezHongjie ChenDeeksha BaliHeather BaudetLorne ClarkeChristina HungRong MaoTatiana YuzyukWilliam J CraigenFilippo Pinto E VairoPublished in: Molecular genetics and metabolism (2024)
The LDSS not only serves as a tool for gene prioritization prior to clinical validity curation, but also contributes to the ongoing discussion on the definition of LD. Moreover, the LDSS provides a flexible framework adaptable to future discoveries, ensuring its relevance in the ever-expanding landscape of LD research.