In our next webinar, we welcome Anna Esteve Codina from CNAG with a talk about the added value of using RNA-seq and long-read genome and methylomes for rare diasease diagnosis.
Despite advances in whole-exome and short-read genome sequencing, up to half of rare disease patients remain undiagnosed. Integrating RNA-seq with long-read whole-genome sequencing (LR-WGS) — which simultaneously provides sequence, structural variant, and direct methylation data — offers a powerful strategy to uncover pathogenic variants and regulatory defects missed by standard approaches. RNA-seq reveals aberrant expression, splicing, and allele-specific transcription; LR-WGS resolves complex structural variants, repeat expansions, and enables genome-wide, allele-specific methylation profiling without additional assays. This combined approach not only increases diagnostic yield but also provides functional and regulatory insights that improve variant interpretation, guide clinical decision-making, and shorten the diagnostic odyssey.
Come along and learn with us!
16 October | Thursday, 11:00 CEST
Register HERE