Haplarithmisis (Greek for haplotype numbering) is a conceptual process in Genetics that enables simultaneous haplotyping and copy-number profiling of DNA samples derived from cells. Haplarithmisis also reveals parental, segregation, and mechanistic origins of genomic anomalies.Zamani Esteki et al., Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells, The American Journal of Human Genetics (2015), https://dx.doi.org/10.1016/j.ajhg.2015.04.011Zamani Esteki M et al., HAPLOTYPING AND COPY NUMBER TYPING USING POLYMORPHIC VARIANT ALLELIC FREQUENCIES (2015), https://patentscope.wipo.int/search/en/detail.jsf?docId=WO2015028576 The resulting profiles of haplarithmisis are called parental haplarithms (i.e. paternal haplarithm and maternal haplarithm).
Clinical Applications Haplarithmisis enabled a new form of preimplantation genetic diagnosis, by which segmental and full chromosome anomalies could not only be detected but also traced back to meiosis or mitosis.Zamani Esteki et al., Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells, The American Journal of Human Genetics (2015), https://dx.doi.org/10.1016/j.ajhg.2015.04.011
Research Applications In its first application in basic genome research, haplarithmisis led to discovery of parental genome segregation, a phenomenon that causes the segregation of entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy. Destouni A, Zamani Esteki M et al., Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy (2016), http://www.genome.org/cgi/doi/10.1101/gr.200527.115
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