Haplarithmisis (Greek for haplotype numbering) is a conceptual process in Genetics that enables simultaneous haplotyping and copy-number profiling of DNA samples derived from a large number of cells down to a single cells. Haplarithmisis also reveals parental and segregation/mechanistic origin of genomic anomalies. The resulting profiles of haplarithmisis are called parental haplarithms (i.e. paternal haplarithm and maternal haplarithm).
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Translation of haplarithmisis in the clinic
Haplarithmisis enabled a new form of preimplantation genetic diagnosis, such that not only segmental and full chromosome anomalies could be detected but also it allowed tracing back of these anomalies to meiosis and mitosis.
Application of haplarithmisis in basic research
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.