Towards a comprehensive catalogue of validated and target-linked human enhancers
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 …
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …
Clinical epigenetics: seizing opportunities for translation
M Berdasco, M Esteller - Nature Reviews Genetics, 2019 - nature.com
Biomarker discovery and validation are necessary for improving the prediction of clinical
outcomes and patient monitoring. Despite considerable interest in biomarker discovery and …
outcomes and patient monitoring. Despite considerable interest in biomarker discovery and …
Ensembl 2022
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 …
to genomic data and annotation. It has been designed to efficiently deliver annotation at …
Regulatory genomic circuitry of human disease loci by integrative epigenomics
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 …
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
Ensembl 2020
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 …
genome annotation such as genes, variation, regulation and comparative genomics across …
A reference map of the human binary protein interactome
Global insights into cellular organization and genome function require comprehensive
understanding of the interactome networks that mediate genotype–phenotype relationships …
understanding of the interactome networks that mediate genotype–phenotype relationships …
Reference-based analysis of lung single-cell sequencing reveals a transitional profibrotic macrophage
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 …
by an activated mesenchyme. Macrophages accumulate in fibrosis, but the role of specific …
GENCODE reference annotation for the human and mouse genomes
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 …
is a fundamental requirement for high quality analysis of data informing both genome …
Ensembl 2019
F Cunningham, P Achuthan, W Akanni… - Nucleic acids …, 2019 - academic.oup.com
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 …
available to the entire scientific community without restrictions. Ensembl seeks to be a …
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …
across individuals is essential for identifying the cellular mechanisms that underlie human …