Most clinical labs in the US rely on ClinGen's Dosage Sensitivity assessments when determining genetic mechanism of disease, especially for analysis of CNVs. What some labs might not know is that there is another similar resource available from EMBL-EBI called Gene2Phenotype (G2P). In this post, we explore the benefits of incorporating G2P's curated disease mechanisms for analysis of CNVs. ClinGen Resource European Bioinformatics Institute | EMBL-EBI #genecuration #genetictesting #ngs #precisionmedicine
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Leveraging expertise in data analysis to discover genomic data patterns and gain meaningful insights. Data Analysis | Visualization | NGS | Pipelines | Custom Bioinformatics | HPC
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