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  2. 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.

  3. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    A tag SNP is a representative single-nucleotide polymorphism in a region of the genome with high linkage disequilibrium (the non-random association of alleles at two or more loci). Tag SNPs are useful in whole-genome SNP association studies, in which hundreds of thousands of SNPs across the entire genome are genotyped.

  4. Genotyping by sequencing - Wikipedia

    en.wikipedia.org/wiki/Genotyping_by_sequencing

    The next step is to identify SNPs from aligned tags and score all discovered SNPs for various coverage, depth and genotypic statistics. Once a large-scale, species-wide SNP production has been run, it is possible to quickly call known SNPs in newly sequenced samples. [8]

  5. Manhattan plot - Wikipedia

    en.wikipedia.org/wiki/Manhattan_plot

    A Manhattan plot is a type of plot, usually used to display data with a large number of data-points, many of non-zero amplitude, and with a distribution of higher-magnitude values. The plot is commonly used in genome-wide association studies (GWAS) to display significant SNPs .

  6. Pileup format - Wikipedia

    en.wikipedia.org/wiki/Pileup_format

    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.

  7. SNP array - Wikipedia

    en.wikipedia.org/wiki/SNP_array

    A SNP array can also be used to generate a virtual karyotype using software to determine the copy number of each SNP on the array and then align the SNPs in chromosomal order. [10] SNPs can also be used to study genetic abnormalities in cancer. For example, SNP arrays can be used to study loss of heterozygosity (LOH). LOH occurs when one allele ...

  8. Tag SNP - Wikipedia

    en.wikipedia.org/wiki/Tag_SNP

    The SNP sites that partition the haplotypes into the same group are called redundant sites. The SNP sites which contain distinct information within a block are called non-redundant sites (NRS). In order to further compress the haplotype matrix, the algorithm needs to find the tag SNPs such that all haplotypes of the matrix can be distinguished.

  9. SNP genotyping - Wikipedia

    en.wikipedia.org/wiki/SNP_genotyping

    The use of SNPs is being extended in the HapMap project, which aims to provide the minimal set of SNPs needed to genotype the human genome. SNPs can also provide a genetic fingerprint for use in identity testing. [1] The increase of interest in SNPs has been reflected by the furious development of a diverse range of SNP genotyping methods.