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The Reference Sequence (RefSeq) database [1] is an open access, annotated and curated collection of publicly available nucleotide sequences (DNA, RNA) and their protein products. RefSeq was introduced in 2000.
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 ...
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 new human pangenome reference integrates the missing 8% of the human genome sequence, adding over 100 million new bases. It aims to capture more population diversity than the previous reference sequence and is based on 94 high-quality haploid assemblies from individuals with broad genetic diversity.
Selection of a reference sequence for relative compression can affect compression performance. Choosing a consensus reference sequence over a more specific reference sequence (e.g., the revised Cambridge Reference Sequence) can result in higher compression ratio because the consensus reference may contain less bias in its data. [4]
Reference annotations of genomes are available from various sources, each with their own independent goals and policies, which results in some annotation variation. The CCDS project was established to identify a gold standard set of protein-coding gene annotations that are identically annotated on the human and mouse reference genome assemblies ...
Locus Reference Genomic (LRG) records have unique accession numbers starting with LRG_ followed by a number. They are recommended in the Human Genome Variation Society Nomenclature guidelines as stable genomic reference sequences to report sequence variants in LSDBs and the literature.
Genome sequences may be improved over time so reference SNPs (“refSNP”) from previous builds, as well as new submitted SNPs, are re-mapped to the newly available genome sequence. Multiple submitted SNPs, if mapping to the same location, are clustered into one refSNP cluster and are assigned a reference SNP ID number.