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In bioinformatics, a sequence alignment is a way of arranging the sequences of DNA, RNA, or protein to identify regions of similarity that may be a consequence of functional, structural, or evolutionary relationships between the sequences. [1] Aligned sequences of nucleotide or amino acid residues are typically represented as rows within a matrix.
Binary Alignment Map (BAM) is the comprehensive raw data of genome sequencing; [1] it consists of the lossless, compressed binary representation of the Sequence Alignment Map-files. [2] [3] BAM is the compressed binary representation of SAM (Sequence Alignment Map), a compact and index-able representation of nucleotide sequence alignments. [4]
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.
Multiple sequence alignment (MSA) is the process or the result of sequence alignment of three or more biological sequences, generally protein, DNA, or RNA. These alignments are used to infer evolutionary relationships via phylogenetic analysis and can highlight homologous features between sequences.
In bioinformatics, sequence assembly refers to aligning and merging fragments from a longer DNA sequence in order to reconstruct the original sequence. [1] This is needed as DNA sequencing technology might not be able to 'read' whole genomes in one go, but rather reads small pieces of between 20 and 30,000 bases, depending on the technology used. [1]
At this step, sequencing reads whose quality have been improved are mapped to a reference genome using alignment tools like BWA [17] for short DNA sequence reads, minimap [18] for long read DNA sequences, and STAR [19] for RNA sequence reads. The purpose of mapping is to find the origin of any given read based on the reference sequence.
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A global alignment performs an end-to-end alignment of the query sequence with the reference sequence. Ideally, this alignment technique is most suitable for closely related sequences of similar lengths. The Needleman-Wunsch algorithm is a dynamic programming technique used to conduct global alignment. Essentially, the algorithm divides the ...