Vanessa Gitau
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View article: Mondo: Integrating Disease Terminology Across Communities
Mondo: Integrating Disease Terminology Across Communities Open
Precision medicine aims to enhance diagnosis, treatment, and prognosis by integrating multimodal data at the point of care. However, challenges arise due to the vast number of diseases, differing methods of classification, and conflicting …
View article: ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time Open
Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that gene…
View article: The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Open
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need…