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The Variant Call Format or VCF is a standard text file format used in bioinformatics for storing gene sequence variations. The format was developed in 2010 for the 1000 Genomes Project and has since been used by other large-scale genotyping and DNA sequencing projects. [1][2] VCF is a common output format for variant calling programs due to its ...
FASTA format. In bioinformatics and biochemistry, the FASTA format is a text-based format for representing either nucleotide sequences or amino acid (protein) sequences, in which nucleotides or amino acids are represented using single-letter codes. The format allows for sequence names and comments to precede the sequences.
The fixation index (FST) is a measure of population differentiation due to genetic structure. It is frequently estimated from genetic polymorphism data, such as single-nucleotide polymorphisms (SNP) or microsatellites. Developed as a special case of Wright's F-statistics, it is one of the most commonly used statistics in population genetics.
Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two ...
Single-nucleotide polymorphism. The upper DNA molecule differs from the lower DNA molecule at a single base-pair location (a G/A polymorphism). In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / snɪp /; plural SNPs / snɪps /) is a germline substitution of a single nucleotide at a specific position in the genome.
Sequence alignment. 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 ...
Molecular phylogenetics (/ m ə ˈ l ɛ k j ʊ l ər ˌ f aɪ l oʊ dʒ ə ˈ n ɛ t ɪ k s, m ɒ-, m oʊ-/ [1] [2]) is the branch of phylogeny that analyzes genetic, hereditary molecular differences, predominantly in DNA sequences, to gain information on an organism's evolutionary relationships. From these analyses, it is possible to determine ...
A section of DNA; the sequence of the plate-like units (nucleotides) in the center carries information. Genes are pieces of DNA that contain information for the synthesis of ribonucleic acids (RNAs) or polypeptides. Genes are inherited as units, with two parents dividing out copies of their genes to their offspring.