Horizon Case Series: de novo KMT2D variant and Kabuki Syndrome скачать в хорошем качестве

Horizon Case Series: de novo KMT2D variant and Kabuki Syndrome

In this talk, Ms. Marese Grehan talk about a complex case impacted by a de novo variant in KMT2D gene that manifested in Kabuki Syndrome. The genome was sequenced using PacBio HiFi long read data and the variants were classified using Horizon platform. About GenomeArc: GenomeArc stands as a pioneering biotechnology firm dedicated to offering sophisticated genomic analytical assistance for the resolution of clinical genetic tests for oncology and rare diseases. Given the intricate nature of genetic diseases, a comprehensive and integrated data support system becomes imperative for the nuanced interpretation/classification of variants and their associations with diseases. Leveraging the cutting-edge capabilities of our genomic medicine platform, GenomeArc Horizon®, we offer a robust and integrated framework for variant interpretation enabling diagnosis, ensuring a thorough understanding of the genetic landscape and enhancing the efficiency of genomic medicine applications. #cancer #rarediseases #cancergenome #tumor #Genomics #CRISPR #GenomeArc #raredisease #DubaiFutureFoundation #FutureOfMedicine #Biotech #PrecisionMedicine #DNA #GeneticEngineering #Innovation #Science #genes