Single-molecule, full-length transcript isoform sequencing reveals disease-associated RNA isoforms

ABSTRACT: Alternative splicing generates differing RNA isoforms that govern phenotypic complexity of eukaryotes. Its malfunction underlies many diseases, including cancer and cardiovascular diseases. Comparative analysis of RNA isoforms at the genome-wide scale has been difficult. Here, we established an experimental and computational pipeline that accurately quantifies transcript isoforms in their entire length from cDNA sequences with a full-length isoform detection accuracy of 97.6%. We generated a searchable, quantitative human transcriptome annotation with 31,025 known and 5,740 novel transcript isoforms (http://steinmetzlab.embl.de/iBrowser/). By analyzing the isoforms in the presence of RNA Binding Motif Protein 20 (RBM20) mutations associated with aggressive dilated cardiomyopathy (DCM), we

INSTRUMENT(S): MinION

ORGANISM(S): Homo sapiens

SUBMITTER: Chenchen Zhu 

PROVIDER: E-MTAB-7334 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress