Session on long-read sequencing in disease research accepted for the 2022 ASHG annual meeting!

Aberrant splicing underlies many human diseases, including cancer, cardiovascular diseases, and neurological disorders. The mapping of splicing quantitative trait loci (sQTL) has shown that genetic regulation of alternative splicing is widespread. However, limitations in short-read RNA sequencing have prevented a full picture of how genetic variants lead to production of particular isoform products. Long read sequencing offers the capability to sequence full-length mRNA transcripts to more directly link sQTLs to disease-relevant protein alterations. Long read sequencing approaches allow for quantification of disease-associated isoforms and prediction of encoded proteins, which provides a path towards mechanistic understanding of disease.

Dr. Gloria Sheynkman, with co-chair Dr. Pete Castaldi, will be leading a session at the American Society for Human Genetics annual meeting to be held in Los Angeles this October 2022. The session, entitled, “Long-read RNA-seq to illuminate splice-driven mechanisms of human genetic diseases”, will include speakers, including Arby Abood (Dr. Charles Farber’s laboratory) from the University of Virginia BMG PhD program. The session will highlight new understanding that can be enabled through integration of long-read sequencing in human disease genetics workflows.