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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 Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first announced in 1981. [ 2 ] A group led by Fred Sanger at the University of Cambridge had sequenced the mitochondrial genome of one woman of European descent [ 3 ] during the 1970s, determining it to have a length of 16,569 base pairs (0.0006% of the nuclear human genome ...
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 ...
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]
Gene SGCB aligned to the human genome. Central to the Ensembl concept is the ability to automatically generate graphical views of the alignment of genes and other genomic data against a reference genome. These are shown as data tracks, and individual tracks can be turned on and off, allowing the user to customise the display to suit their ...