RNA diversity in human tissues mapped with emerging sequencing technology

"Equipped with the latest sequencing technology, we were able to read segments of over one thousand nucleotides, compared to less than one hundred with standard approaches," describes Dr. Beryl Cummings, one of the leaders of the project and formerly a postdoctoral fellow at the Broad Institute. "Importantly, we were able to do this at scale of over 80 samples from many tissues, which led to discovery of tens of thousands of novel transcripts," she adds.

The researchers used their data to characterize how genetic and environmental differences can manifest in differences in the transcriptome. "Genetic differences between individuals can affect how genes are regulated. We were able to describe with a finer resolution than before how transcript structures are affected. This helps to understand molecular underpinnings of variants that contribute to disease risk," explains Dr. Dafni Glinos from the New York Genome Center and co-first author of the study.

"We believe the discoveries, data, and tools we present pave the way for a new era of transcriptome research. About a decade ago, high-through analysis of small DNA or RNA segments revolutionized genomics. I think we're at the cusp of a new revolution with long read sequencing" says Professor Tuuli Lappalainen from the New York Genome Center and one of the leaders of the study.