Bioconductor is an open-source, open-development software project for the analysis and
comprehension of high-throughput data in genomics and molecular biology. The project …

Competing endogenous RNAs (ceRNAs) are transcripts that can regulate each other at post-
transcription level by competing for shared miRNAs. CeRNA networks link the function of …

Abstract The 1000 Genomes Project set out to provide a comprehensive description of
common human genetic variation by applying whole-genome sequencing to a diverse set of …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is
largely based on genome-wide association study (GWAS) analysis of common SNPs …

Identifying functional effects of noncoding variants is a major challenge in human genetics.
To predict the noncoding-variant effects de novo from sequence, we developed a deep …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Cell-to-cell variation is a universal feature of life that affects a wide range of biological
phenomena, from developmental plasticity, to tumour heterogeneity. Although recent …

Methods used to sequence the transcriptome often produce more than 200 million short
sequences. We introduce StringTie, a computational method that applies a network flow …

The reference human genome sequence set the stage for studies of genetic variation and its
association with human disease, but epigenomic studies lack a similar reference. To …