NGS Webinar May 2025

The next webinar will be on the 8th of may at 11:00 CST.

German Demidov, PhD will introduce us to the Solve-Rare Diseases Consortium and talk about solving complex rare disease cases.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. In this talk I as a co-author of this study will share the bioinformatic approaches we took for detection and annotation and prioritization of long structural variants. The talk would be especially useful for clinical genetic scientists facing the challenges of large dataset reanalysis.


Register here!