Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
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DOI: 10.1002/humu.23823
Abstract: The Critical Assessment of Genome Interpretation‐5 intellectual disability challenge asked to use computational methods to predict patient clinical phenotypes and the causal variant(s) based on an analysis of their gene panel sequence data. Sequence data… read more here.
Keywords: pathogenic variants; intellectual disability; patient clinical; disability ... See more keywords