Roderic Guigó

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 biol...

The Genotype-Tissue Expression (GTEx) project.

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain un...

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Expression, genetic variation, and tissues Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this varia...

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

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 ENCO...

Transcriptome and genome sequencing uncovers functional variation in humans

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Initial sequencing and comparative analysis of the mouse genome

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

An integrated encyclopedia of DNA elements in the human genome

The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) pro...

GENCODE: The reference human genome annotation for The ENCODE Project

The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation. Sinc...

The Genome Sequence of the Malaria Mosquito <i>Anopheles gambiae</i>

Anopheles gambiae is the principal vector of malaria, a disease that afflicts more than 500 million people and causes more than 1 million deaths each year. Tenfold shotgun seque...

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.