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  2. Pileup format - Wikipedia

    en.wikipedia.org/wiki/Pileup_format

    This occurs, for example, if a base in the reference genome is intronic and a read maps to two flanking exons. If quality scores are given in a sixth column , they refer to the quality of the read and not the specific base.

  3. SNP annotation - Wikipedia

    en.wikipedia.org/wiki/SNP_annotation

    SNPs are the most common genetic variant found in all individual with one SNP every 100–300 bp in some species. [4] Since there is a massive number of SNPs on the genome , there is a clear need to prioritize SNPs according to their potential effect in order to expedite genotyping and analysis.

  4. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/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 / s n ɪ p /; plural SNPs / s n ɪ p s /) is a germline substitution of a single nucleotide at a specific position in the genome.

  5. List of file signatures - Wikipedia

    en.wikipedia.org/wiki/List_of_file_signatures

    A file signature is data used to identify or verify the content of a file. Such signatures are also known as magic numbers or magic bytes. Many file formats are not intended to be read as text. If such a file is accidentally viewed as a text file, its contents will be unintelligible.

  6. SNV calling from NGS data - Wikipedia

    en.wikipedia.org/wiki/SNV_calling_from_NGS_data

    The calculation of prior probabilities depends on available data from the genome being studied, and the type of analysis being performed. For studies where good reference data containing frequencies of known mutations is available (for example, in studying human genome data), these known frequencies of genotypes in the population can be used to estimate priors.

  7. Sequence analysis - Wikipedia

    en.wikipedia.org/wiki/Sequence_analysis

    The output of gene expression analysis is typically a table with values representing the expression levels of gene IDs or names in rows and samples in the columns as well as standard errors and p-values. The results in the table can be further visualized using volcano plots and heatmaps, where colors represent the estimated expression level.

  8. BED (file format) - Wikipedia

    en.wikipedia.org/wiki/BED_(file_format)

    RGB value in the form R, G, B (e.g. 255,0,0) determining the display color of the annotation contained in the BED file No 10: blockCount: Number of blocks (e.g. exons) on the line of the BED file No 11: blockSizes: List of values separated by commas corresponding to the size of the blocks (the number of values must correspond to that of the ...

  9. List of file formats - Wikipedia

    en.wikipedia.org/wiki/List_of_file_formats

    ATY – 3D Topicscape file, produced when an association type is exported; used to permit round-trip (export Topicscape, change files and folders as desired, re-import to 3D Topicscape) CAG (file format) – Linear Reference System; FES (file format) – 3D Topicscape file, produced when a fileless occurrence in 3D Topicscape is exported to ...