Susan M. Downes

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

SVRare improves the discovery of disease-causing structural variants by aggregating and annotating rare variants from whole genome sequencing data in the 100K Genomes Project.

Phenogenon identifies gene-phenotype associations in rare genetic diseases by integrating phenotype ontologies, variant frequency data, and pathogenicity scores, uncovering both known and novel relations.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.