This October, some NCBI staff will head out to present at the American Society of Human Genetics (ASHG) conference in sunny San Diego. Below, we give you an inside scoop on the ClinVar poster that we’ll present at ASHG.
Want to learn more about how you can submit phenotype and functional data? Or access the data?
Have we hooked you yet?
Head to Poster 1492T “Increasing phenotypic and functional evidence in ClinVar” on Thursday, Oct. 18 from 3 PM to 4 PM. (Exhibit Hall, Ground Floor)
ClinVar, your place to find information about genomic variation and its relationship to human health and disease.
Right now, the ClinVar database currently holds more than 675,000 submitted interpretations representing 417,000 unique variants.
Most of the variant interpretations submitted to ClinVar are provided by clinical testing laboratories. However, these laboratories have little, or no knowledge of the clinical features observed in the individual being tested, which leads to submissions rarely including any phenotypic data. ClinVar bridges this gap with submissions from clinical providers and patient registries that focus on patient-associated phenotypes.
Clinical testing laboratories also have a difficult task generating or even finding results about functional evidence – an important category for interpretation. ClinVar welcomes submissions from research laboratories with evidence from functional studies, such as in vitro assays, cell culture models, or animal models. Obtaining and sharing functional evidence from research laboratories alongside phenotypic data and other evidence makes it easier for clinical laboratories to find the data needed for robust interpretation of variants.
Stay up-to-date about NCBI staff activities at ASHG 2018 by following us on Twitter at @NCBI_Clinical and @NCBI or by checking out the Conferences and Presentations page.
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