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View article: Clinical variants paired with phenotype: A rich resource for brain gene curation
Clinical variants paired with phenotype: A rich resource for brain gene curation Open
A significant proportion of clinical variants that are novel or uncertain are not shared, limiting the evidence base for new gene-disease relationships. Registration of paired clinical genetic test results with phenotype has the potential …
View article: Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification Open
Understanding whether there is enough evidence to implicate a gene's role in a given disease, as well as the mechanisms by which variants in this gene might cause this disease, is essential to determine clinical relevance. The National Ins…