Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewed
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski
This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.
22 citationstop 3%