Developing a scoring system for gene curation prioritization in lysosomal diseases.

ABSTRACT:

Introduction

Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially with the increasing prominence of genetic testing as a primary diagnostic method. As the list of genes associated with LD continues to expand due to the use of more comprehensive tests such as exome and genome sequencing, it is imperative to understand the clinical validity of the genes, as well as identify appropriate genes for inclusion in multi-gene testing and sequencing panels. The Clinical Genome Resource (ClinGen) works to determine the clinical importance of genes and variants to support precision medicine. As part of this wo

SUBMITTER: Vernet Machado Bressan Wilke M 

PROVIDER: S-EPMC11473227 | biostudies-literature | 2024 Sep-Oct

REPOSITORIES: biostudies-literature