Haplarithmisis
Haplarithmisis (Greek for
copy-number profiling of DNA samples derived from cells. Haplarithmisis also reveals parental, segregation, and mechanistic origins of genomic anomalies.[1][2] 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.[3][4]
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. [5][6]
References
- ^ 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
- ^ Zamani 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
- ^ 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
- ^ "The Bulletin".
- ^ 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
- PLoS. Retrieved 17 September 2016.