File:HaplarithmisisPrinciple.tif

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English: Haplarithmisis applies the following steps:

1. The parental genotypes are phased via an available SNP genotype derived from a close relative (see analysis options of haplarithmsis);

2. The informative SNP loci are identified. A SNP locus is defined informative when one parent is heterozygous and the other parent is homozygous for this SNP;

3. The informative SNPs are categorized as paternal or maternal. An informative SNP is defined ‘‘paternal’’ when the father’s genotype is heterozygous and the mother’s genotype is homozygous. Similarly, an informative SNP is defined ‘‘maternal’’ when the mother’s SNP genotype is heterozygous and the father’s SNP genotype is homozygous;

4. These maternal and paternal informative SNP loci are subcategorized on the basis of phased parental SNP genotype combinations;

5. The SNP BAF values of the DNA sample are distributed into a paternal or maternal category according to the informative parental SNP genotypes defined in step 3, and further into four parental subcategories (P1, P2, M1, M2) according to theinformative phased parental SNP genotypes defined in step 4;

6. The BAF values are subsequently mirrored around the 0.5 axis for those SNPs where either parent has a heterozygous SNP call BA after phasing. Per subcategory (P1, P2, M1, M2), these BAF values for consecutive SNPs in the genome are segmented, emerging homologous recombination between the parental H1 and H2;

7.These segments and the underlying processed SNP BAF values are eventually visualized into two separate haplarithmisis profiles, i.e. ‘‘haplarithms’’.
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Author Pensivescientist

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current23:06, 17 September 2016Thumbnail for version as of 23:06, 17 September 20161,458 × 1,080 (6.01 MB)Pensivescientist (talk | contribs)Cross-wiki upload from en.wikipedia.org

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