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Checks for a start or stop codon in the reference genome sequence Internal stop: Checks for the presence of an internal stop codon in the genomic sequence NCBI:Ensembl protein length different: Checks if the protein encoded by the NCBI RefSeq is the same length as the EBI/WTSI protein NCBI:Ensembl low percent identity
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 National Center for Biotechnology Information (NCBI) [1] [2] is part of the (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The NCBI is located in Bethesda, Maryland, and was founded in 1988 through legislation sponsored by US Congressman Claude Pepper.
PIR, hosted by the National Biomedical Research Foundation (NBRF) at the Georgetown University Medical Center in Washington, DC, US, is heir to the oldest protein sequence database, Margaret Dayhoff's Atlas of Protein Sequence and Structure, first published in 1965. [2] In 2002, EBI, SIB, and PIR joined forces as the UniProt consortium. [3]
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 ...
Pileup format is a text-based format for summarizing the base calls of aligned reads to a reference sequence. This format facilitates visual display of SNP /indel calling and alignment. It was first used by Tony Cox and Zemin Ning at the Wellcome Trust Sanger Institute , and became widely known through its implementation within the SAMtools ...
The GenBank sequence database is an open access, annotated collection of all publicly available nucleotide sequences and their protein translations. It is produced and maintained by the National Center for Biotechnology Information (NCBI; a part of the National Institutes of Health in the United States) as part of the International Nucleotide Sequence Database Collaboration (INSDC).
2: POS: The 1-based position of the variation on the given sequence. 3: ID: The identifier of the variation, e.g. a dbSNP rs identifier, or if unknown a ".". Multiple identifiers should be separated by semi-colons without white-space. 4: REF: The reference base (or bases in the case of an indel) at the given position on the given reference ...