Clinical phenotyping for variant interpretation
Dr Mohnish Suri, from Nottingham University Hospitals, discusses in this interview the importance of phenotyping for variant interpretation in genomic tests.
Phenotyping helps establish a causal link between variants and clinical presentations, crucial when interpreting results from multigene panels, exome sequencing, or genome sequencing.
Dr Suri discusses how the ACMG/AMP criterion PP4 (patient’s phenotype or family history is highly specific for a disease with a single genetic aetiology) can be used to integrate this information into variant classification, based on UK ACGS recommendations.
Dr Suri also illustrates how combining the clinical features and microscopic analysis led to the diagnosis of Netherton syndrome.
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
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