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Human whole reference genome from the assembly GRCh38/hg38 (Genome Reference Consortium Human Build 38). The Genome Reference Consortium (GRC) is an international collective of academic and research institutes with expertise in genome mapping, sequencing, and informatics, formed to improve the representation of reference genomes.
The first printout of the human reference genome presented as a series of books, displayed at the Wellcome Collection, London. A reference genome (also known as a reference assembly) is a digital nucleic acid sequence database, assembled by scientists as a representative example of the set of genes in one idealized individual organism of a species.
The Human Pangenome Reference is a collection of genomes from a diverse cohort of individuals compiled by the Human Pangenome Reference Consortium (HPRC). This first draft pangenome comprises 47 phased, diploid assemblies from a diverse cohort of individuals and was intended to capture the genetic diversity of the human population.
The human reference genome contains somewhere between 19,000 and 20,000 protein-coding genes. [14] [15] These genes contain an average of 10 introns and the average size of an intron is about 6 kb (6,000 bp). [16] This means that the average size of a protein-coding gene is about 62 kb and these genes take up about 40% of the genome. [17]
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint.
The human Proteinpedia is based on HPRD (Human protein reference database)which is a repository hosting over 30,000 human proteins. However it is unclear how many of these are unique proteins Human Protein Atlas: The Swedish Government It contains roughly 10 million IHC images of a bit less than 25,000 antibodies.
Karyotype visualisation in Ensembl Genomes. The key feature of Ensembl Genomes is its graphical interface, which allows users to scroll through a genome and observe the relative location of features such as conceptual annotation (e.g. genes, SNP loci), sequence patterns (e.g. repeats) and experimental data (e.g. sequences and external sequence features mapped onto the genome). [1]
COSMIC is an online database of somatically acquired mutations found in human cancer. [1] Somatic mutations are those that occur in non- germline cells that are not inherited by children. COSMIC, an acronym of Catalogue Of Somatic Mutations In Cancer , curates data from papers in the scientific literature and large scale experimental screens ...