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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

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

GENETIC EPIDEMIOLOGY（2024）

引用 0|浏览32
关键词
non-coding variants,rare diseases,variant prioritization,whole-genome sequencing
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