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The 1000 Genomes Project was designed to bridge the gap of knowledge between rare genetic variants that have a severe effect predominantly on simple traits (e.g. cystic fibrosis, Huntington disease) and common genetic variants have a mild effect and are implicated in complex traits (e.g. cognition, diabetes, heart disease). [14]
UCSC Genomes. In the years since its inception, the UCSC Browser has expanded to accommodate genome sequences of all vertebrate species and selected invertebrates for which high-coverage genomic sequences is available, [6] now including 108 species. High coverage is necessary to allow overlap to guide the construction of larger contiguous regions.
1000 Genomes Project: launched in January 2008. The genomes of more than a thousand anonymous participants from a number of different ethnic groups were analyzed and made publicly available. EggNOG Database: a hierarchical, functionally and phylogenetically annotated orthology resource based on 5090 organisms and 2502 viruses. It provides ...
The first genome browser, known as the Ensembl Genome Browser, was developed as part of the Human Genome Project by a group of researchers from the European Bioinformatics Institute (EBI). It was created with the aim of providing a complete resource for the human genome sequence, with focus on gene annotation.
In January 2008, the launch of the 1000 Genomes Project, a collaboration with scientists around the globe, signalled an effort to sequence the genomes of 1000 individuals in order to create the "most detailed map of human genetic variation to support disease studies". [25]
The Variant Call Format or VCF is a standard text file format used in bioinformatics for storing gene sequence or DNA sequence variations. The format was developed in 2010 for the 1000 Genomes Project and has since been used by other large-scale genotyping and DNA sequencing projects.
By the 2010s, the genome sequences of more than a thousand-human individuals (through the 1000 Genomes Project) and several model organisms became available. As such, genome annotation remains a major challenge for scientists investigating the human and other genomes. [21] [22]
Ensembl genome database project is a scientific project at the European Bioinformatics Institute, which provides a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other vertebrates and model organisms.