The emerging complexity of gene fusions in cancer

F Mertens, B Johansson, T Fioretos… - Nature Reviews Cancer, 2015 - nature.com
Structural chromosome rearrangements may result in the exchange of coding or regulatory
DNA sequences between genes. Many such gene fusions are strong driver mutations in …

Metazoan promoters: emerging characteristics and insights into transcriptional regulation

B Lenhard, A Sandelin, P Carninci - Nature Reviews Genetics, 2012 - nature.com
Promoters are crucial for gene regulation. They vary greatly in terms of associated regulatory
elements, sequence motifs, the choice of transcription start sites and other features. Several …

BBMerge–accurate paired shotgun read merging via overlap

B Bushnell, J Rood, E Singer - PloS one, 2017 - journals.plos.org
Merging paired-end shotgun reads generated on high-throughput sequencing platforms can
substantially improve various subsequent bioinformatics processes, including genome …

The Ensembl gene annotation system

BL Aken, S Ayling, D Barrell, L Clarke, V Curwen… - Database, 2016 - academic.oup.com
The Ensembl gene annotation system has been used to annotate over 70 different
vertebrate species across a wide range of genome projects. Furthermore, it generates the …

Landscape of transcription in human cells

S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann… - Nature, 2012 - nature.com
Eukaryotic cells make many types of primary and processed RNAs that are found either in
specific subcellular compartments or throughout the cells. A complete catalogue of these …

Next-generation DNA sequencing

J Shendure, H Ji - Nature biotechnology, 2008 - nature.com
DNA sequence represents a single format onto which a broad range of biological
phenomena can be projected for high-throughput data collection. Over the past three years …

The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression

T Derrien, R Johnson, G Bussotti, A Tanzer… - Genome …, 2012 - genome.cshlp.org
The human genome contains many thousands of long noncoding RNAs (lncRNAs). While
several studies have demonstrated compelling biological and disease roles for individual …

A quantitative atlas of polyadenylation in five mammals

A Derti, P Garrett-Engele, KD MacIsaac… - Genome …, 2012 - genome.cshlp.org
We developed PolyA-seq, a strand-specific and quantitative method for high-throughput
sequencing of 3′ ends of polyadenylated transcripts, and used it to globally map …

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Management Group Liefer Laura A. 51 Wetterstrand … - nature, 2007 - nature.com
We report the generation and analysis of functional data from multiple, diverse experiments
performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE …

The transcriptional landscape of the mammalian genome

P Carninci, T Kasukawa, S Katayama, J Gough… - science, 2005 - science.org
This study describes comprehensive polling of transcription start and termination sites and
analysis of previously unidentified full-length complementary DNAs derived from the mouse …