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While standard data compression tools (e.g., zip and rar) are being used to compress sequence data (e.g., GenBank flat file database), this approach has been criticized to be extravagant because genomic sequences often contain repetitive content (e.g., microsatellite sequences) or many sequences exhibit high levels of similarity (e.g., multiple genome sequences from the same species).
Compressed Reference-oriented Alignment Map (CRAM) is a compressed columnar file format for storing biological sequences aligned to a reference sequence, initially devised by Markus Hsi-Yang Fritz et al. [1] CRAM was designed to be an efficient reference-based alternative to the Sequence Alignment Map (SAM) and Binary Alignment Map (BAM) file ...
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.
The completed human genome sequence will also provide better understanding of human formation as an individual organism and how humans vary both between each other and other species. [ 68 ] Although the 'completion' of the human genome project was announced in 2001, [ 2 ] there remained hundreds of gaps, with about 5–10% of the total sequence ...
GenBank is a public genetic genealogy database that stores genome sequences submitted by many genetic genealogists. Until now, GenBank has contained large number of DNA sequences gained from more than 140,000 registered organizations, and is updated every day to ensure a uniform and comprehensive collection of sequence information.
UC Santa Cruz posted the first human genome sequence on the internet on July 7, 2000, to make it freely available to the public. [2] Kent then immediately began to assemble the UCSC Genome Browser to allow researchers to view the assembled DNA sequence in terms of genes and chromosomes. [ 3 ]