Massimiliano Alfano, Luca De Antoni ... Marzia Rossato
A novel sequencing-based method to characterize CNBP microsatellite expansions in DM2 patients demonstrates benefits for an improved dissection of DM2 genetic architecture, thus potentially ameliorating patient stratification and genetic counseling.
Matthew T Parker, Katarzyna Knop ... Gordon G Simpson
Sequencing mRNA directly with nanopores can reveal the authentic combinations of multiple mRNA processing events in full-length mRNA molecules in addition to identifying base modifications.
Maxime RF Gosselin, Virginie Mournetas ... Dariusz C Gorecki
Loss of full-length dystrophin expression causes significant molecular and functional defects in human and mouse myoblast, thus closing the vicious cycle of DMD pathology.
Human plasma contains protein-protected mRNA fragments, myriad repeat RNAs, and novel intron RNAs, including a family of structured full-length excised introns, some corresponding to mirtron pre-miRNAs and agotrons.
Artem Mikelov, Evgeniia I Alekseeva ... Ivan V Zvyagin
High degree of clonal persistence and excess of inter-individual convergence are observed in human memory B cell repertoires, along with signatures of both negative and positive selection in most abundant clonal lineages.
A deep-sea Planctomycetes bacterium performs a unique budding mode of division and recruits chronic phages for metabolizing nitrogen through the function of auxiliary metabolic genes.
Bulk whole genome sequencing data can be used to study the genetic variation present in pathogenic bacterial populations over the time-course of a single infection within a host.