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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.
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.
File descriptors for a single process, file table and inode table. Note that multiple file descriptors can refer to the same file table entry (e.g., as a result of the dup system call [3]: 104 ) and that multiple file table entries can in turn refer to the same inode (if it has been opened multiple times; the table is still simplified because it represents inodes by file names, even though an ...
Single nucleotide polymorphism annotation (SNP annotation) is the process of predicting the effect or function of an individual SNP using SNP annotation tools. In SNP annotation the biological information is extracted, collected and displayed in a clear form amenable to query.
(System) Snapshot: When set, indicates that the file or directory is a snapshot file. This attribute is maintained by the system, and cannot be set, even by the super-user. whereas DragonFly BSD supports: [14] (User and System) No-history: When set, indicates that history should not be retained for the file or directory.
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.
The read permission grants the ability to read a file. When set for a directory, this permission grants the ability to read the names of files in the directory, but not to find out any further information about them such as contents, file type, size, ownership, permissions. The write permission grants the ability to modify a file. When set for ...
1. Introduce the reference of a SNP of interest, as an example: rs429358, in a database (dbSNP or other). 2. Find MAF/MinorAlleleCount link. MAF/MinorAlleleCount: C=0.1506/754 (1000 Genomes, where number of genomes sampled = N = 2504); [4] where C is the minor allele for that particular locus; 0.1506 is the frequency of the C allele (MAF), i.e. 15% within the 1000 Genomes database; and 754 is ...