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Article

Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.

The Journal of molecular diagnostics : JMD - 1 May 2024

Lee Brian, Nasanovsky Lily, Shen Lishuang, Maglinte Dennis T, Pan Yachen, Gai Xiaowu, Schmidt Ryan J, Raca Gordana, Biegel Jaclyn A, Roytman Megan, An Paul, Saunders Carol J, Farrow Emily G, Shams Soheil, Ji Jianling

Abstract excerpt

Several in silico annotation-based methods have been developed to prioritize variants in exome sequencing analysis. This study introduced a novel metric Significance Associated with Phenotypes (SAP) score, which generates a statistical score by comparing an individual's observed phenotypes against existing gene-phenotype associations. To evaluate the SAP score, a retrospective analysis was performed on 219...

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Databases, Genetic
Exome Sequencing
Genetic Testing
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38360210
DOI: 10.1016/j.jmoldx.2024.01.009

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