Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

Going circular: history, present, and future of circRNAs in cancer

G Pisignano, DC Michael, TH Visal, R Pirlog… - Oncogene, 2023 - nature.com
To date, thousands of highly abundant and conserved single-stranded RNA molecules
shaped into ring structures (circRNAs) have been identified. CircRNAs are multifunctional …

Araport11: a complete reannotation of the Arabidopsis thaliana reference genome

CY Cheng, V Krishnakumar, AP Chan… - The Plant …, 2017 - Wiley Online Library
The flowering plant Arabidopsis thaliana is a dicot model organism for research in many
aspects of plant biology. A comprehensive annotation of its genome paves the way for …

RNA mis-splicing in disease

MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …

Single-cell triple omics sequencing reveals genetic, epigenetic, and transcriptomic heterogeneity in hepatocellular carcinomas

Y Hou, H Guo, C Cao, X Li, B Hu, P Zhu, X Wu, L Wen… - Cell research, 2016 - nature.com
Single-cell genome, DNA methylome, and transcriptome sequencing methods have been
separately developed. However, to accurately analyze the mechanism by which …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

ENCODE data at the ENCODE portal

CA Sloan, ET Chan, JM Davidson… - Nucleic acids …, 2016 - academic.oup.com
Abstract The Encyclopedia of DNA Elements (ENCODE) Project is in its third phase of
creating a comprehensive catalog of functional elements in the human genome. This phase …

Splicing regulation by long noncoding RNAs

N Romero-Barrios, MF Legascue… - Nucleic acids …, 2018 - academic.oup.com
Massive high-throughput sequencing techniques allowed the identification of thousands of
noncoding RNAs (ncRNAs) and a plethora of different mRNA processing events occurring in …

Amphioxus functional genomics and the origins of vertebrate gene regulation

F Marlétaz, PN Firbas, I Maeso, JJ Tena, O Bogdanovic… - Nature, 2018 - nature.com
Vertebrates have greatly elaborated the basic chordate body plan and evolved highly
distinctive genomes that have been sculpted by two whole-genome duplications. Here we …

The need for a human pangenome reference sequence

KH Miga, T Wang - Annual Review of Genomics and Human …, 2021 - annualreviews.org
The reference human genome sequence is inarguably the most important and widely used
resource in the fields of human genetics and genomics. It has transformed the conduct of …