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In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. [1] In 2012, the sequencing of 1092 genomes was announced in a Nature publication. [2] In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research. [3] [4]
The WHG has been involved in many international statistical genetics advances including the Wellcome Trust Case Control Consortia (WTCCC, WTCCC2), the 1000 Genomes Project and the International HapMap Project. [10]
The main reason for improving the reference assemblies are that they are the cornerstones upon which all whole genome studies are based (e.g. the 1000 Genomes Project). The GRC is a collaborative effort which interacts with various groups in the scientific community. [1] The primary member institutes are: The Wellcome Sanger Institute
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]
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 ...
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]
For example, the entire contents of each release of the dbSNP database from NCBI are mapped to human, mouse and other genomes. This includes the fruits of the 1000 Genomes Project, as soon as they are released in dbSNP. Other types of variation data include copy-number variation data and human population allele frequencies from the HapMap project.
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. [1] [2] VCF is a common output format for variant calling programs due to its relative simplicity and scalability.