The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

Biomarker discovery and validation are necessary for improving the prediction of clinical
outcomes and patient monitoring. Despite considerable interest in biomarker discovery and …

Abstract Ensembl (https://www. ensembl. org) is unique in its flexible infrastructure for access
to genomic data and annotation. It has been designed to efficiently deliver annotation at …

Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …

Abstract The Ensembl (https://www. ensembl. org) is a system for generating and distributing
genome annotation such as genes, variation, regulation and comparative genomics across …

Global insights into cellular organization and genome function require comprehensive
understanding of the interactome networks that mediate genotype–phenotype relationships …

Tissue fibrosis is a major cause of mortality that results from the deposition of matrix proteins
by an activated mesenchyme. Macrophages accumulate in fibrosis, but the role of specific …

The accurate identification and description of the genes in the human and mouse genomes
is a fundamental requirement for high quality analysis of data informing both genome …

Abstract The Ensembl project (https://www. ensembl. org) makes key genomic data sets
available to the entire scientific community without restrictions. Ensembl seeks to be a …

Epigenomic maps identify gene regulatory elements by their chromatin state. However,
prevailing short-read sequencing methods cannot effectively distinguish alleles, evaluate …