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PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.

Genetic epidemiology - 1 Jan 2025

Ogloblinsky Marie-Sophie C, Bocher Ozvan, Aloui Chaker, Leutenegger Anne-Louise, Ozisik Ozan, Baudot Anaïs, Tournier-Lasserve Elisabeth, Castillo-Madeen Helen, Lewinsohn Daniel, Conrad Donald F, Génin Emmanuelle, Marenne Gaëlle

Abstract excerpt

The introduction of Next-Generation Sequencing technologies in the clinics has improved rare disease diagnosis. Nonetheless, for very heterogeneous or very rare diseases, more than half of cases still lack molecular diagnosis. Novel strategies are needed to prioritize variants within a single individual. The Population Sampling Probability (PSAP) method was developed to meet this aim but only for coding variants...

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PMID: 39318036
DOI: 10.1002/gepi.22593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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