Cora Vacher’s Post

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Advancing genomic discoveries in Complex Diseases by making it less complicated

Visualisation for people with no long read analysis knowledge (clinician for example): - top graph: notice the drop in coverage which suggest a deletion (colour part=gene, grey=intergenic) - Middle graph: looking at loss of heterozygosity confirming the deletion - Bottom graph: methylation signature of proband vs reference at key CpG sites to demonstrate functional outcomes This is being presented by Danny Miller MD, PhD, FACMG visiting the Institut Imagine in Paris to show that with good visualisation the data speaks for itself Full text on Paschal et al 2025, journal of molecular diagnostic

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