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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 Vairo
Published 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.
Keyphrases
  • copy number
  • genome wide
  • current status
  • single cell
  • transcription factor