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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 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 Reference Genome Browser is a web application for the navigation and analysis of Venter's recently published genome. The HuRef database consists of approximately 32 million DNA reads sequenced using microfluidic Sanger sequencing , assembled into 4,528 scaffolds and 4.1 million DNA variations identified by genome analysis.
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.
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]
GENCODE is a scientific project in genome research and part of the ENCODE (ENCyclopedia Of DNA Elements) scale-up project.. The GENCODE consortium was initially formed as part of the pilot phase of the ENCODE project to identify and map all protein-coding genes within the ENCODE regions (approx. 1% of Human genome). [2]
The human interactome is the set of protein–protein interactions (the interactome) that occur in human cells. [ 1 ] [ 2 ] The sequencing of reference genomes, in particular the Human Genome Project , has revolutionized human genetics , molecular biology , and clinical medicine .