Article
Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.
Human heredity - 1 Jan 2025
Ogloblinsky Marie-Sophie C, Gros-La-Faige Marc B, Lewinsohn Daniel P, Nguyen Mathilde, Velo-Suarez Lourdes, Herzig Anthony, Ludwig Thomas E, Castillo-Madeen Helen, Conrad Donald F, Génin Emmanuelle, Marenne Gaëlle
Abstract excerpt
INTRODUCTION: Next-generation sequencing (NGS) data analysis has become an integral part of clinical genetic diagnosis, raising the question of variant prioritization. The Population Sampling Probability (PSAP) method has been developed to tackle the issue of variant prioritization in the exome of a single patient, by leveraging allele frequencies from population databases and a variant pathogenicity score....
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