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, who was a visiting scholar in the Conrad lab last summer, just had had paper published on extending PSAP to the non-coding genomes in Genetic Epidemiology. Congratulations! Abstract 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 […]