Journal Article

An integrated encyclopedia of DNA elements in the human genome

Laboratoire de Génétique Cellulaire (LGC) ; Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT) ; Institut National Polytechnique (Toulouse) (Toulouse INP) ; Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP) ; Université de Toulouse (UT)-Université de Toulouse (UT), National Human Genome Research Institute (NHGRI), Foissac, Sylvain

2012

Overview

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) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation. The newly identified elements also show a statistical correspondence to sequence variants linked to human disease, and can thereby guide interpretation of this variation. Overall, the project provides new insights into the organization and regulation of our genes and genome, and is an expansive resource of functional annotations for biomedical research.

• Publisher: Nature Publishing Group,CCSD,Nature Publishing Group UK
• Subject: 631/208/191 / 631/208/205/2138 / 631/208/726/649 / 631/337 / Alleles / Animals / Binding Sites - genetics / Biological and medical sciences / Chromatin - genetics / Chromatin - metabolism / Chromatin Immunoprecipitation / Chromosomes, Human - genetics / Chromosomes, Human - metabolism / Classical genetics, quantitative genetics, hybrids / Deoxyribonuclease I - metabolism / Deoxyribonucleic acid / DNA / DNA - genetics / DNA Footprinting / DNA methylation / DNA Methylation - genetics / DNA-Binding Proteins - metabolism / Encyclopedias as Topic / Exons - genetics / Fundamental and applied biological sciences. Psychology / Genes / Genetic Predisposition to Disease - genetics / Genetic research / Genetic transcription / Genetic Variation - genetics / Genetics / Genetics of eukaryotes. Biological and molecular evolution / Genome, Human - genetics / Genome-Wide Association Study / Genomics / Histones - chemistry / Histones - metabolism / Human / Human genome / Humanities and Social Sciences / Humans / Life Sciences / Mammals - genetics / Molecular Sequence Annotation / multidisciplinary / Neoplasms - genetics / Polymorphism, Single Nucleotide - genetics / Promoter Regions, Genetic - genetics / Proteins / Proteins - genetics / Regulatory Sequences, Nucleic Acid - genetics / Science / Sequence Analysis, RNA / Studies / Transcription Factors - metabolism / Transcription, Genetic - genetics
• ISBN: 0003083470, 9780003083477