Article

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis

2024-02-13

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 PSAP (Population Sampling Probability) method was developed to meet this aim but only for coding variants i...

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Literature Corpus work: 3eff47aa-cb6c-58d1-80f3-594656184c76
DOI: 10.1101/2024.02.13.580050

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