Deciphering the genetic cause of rare diseases | Variant Assessment Scientist @ Ambry Genetics
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ALT Image of the strategic framework of the GREGoR Consortium for accelerating genomics in rare disease research, highlighting cross-cutting themes, systematic data generation, computational innovations, and endpoints of success.
ALT Screenshot of article header that reads: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton & Raymond Dalgleish Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.
ALT Screenshot of Figure 1: PP3 evidence strength of missense variants in disease-associated genes. A. Rare (≤1% AF) missense variants in disease-associated genes per proband by PP3 evidence strength for analyzed computational prediction tools. B. Rare (≤1% AF) missense variants in disease-associated genes with PP3 evidence per proband by evidence strength and reported mode of inheritance (AD-only and AR-only) for analyzed computational tools. Boxplots correspond to the first, second, and third quartile of data, with whiskers denoting 1.5 × IQR. Outliers are displayed as individual points.
ALT Headshots of Emma Baple, Sarah Wynn and Lindsay Pearse.