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In this family the ATXN3 mutation segregated completely with the suggestive PD phenotype.
As expected from linkage and IBD studies, the only variant which segregated completely with disease was the c.746G>A; p.R249Q LMX1B variant.
Using previously sequenced genomes (Al-Dous et al. 2011), we analyzed SNPs that segregated completely with Eastern (Khalas) or Western (Deglet Nour and Medjoul) cultivars.
If two SNPs segregated completely independent from each other, i.e. in case of no linkage disequilibrium (LD), one expects to find all possible genotype combinations according to the product of their single locus genotype frequencies.
Multiple dimensional scaling based on the complete data set demonstrated that infected GI-101A xenografts (2 darker blue color) segregated completely in Euclidian space from non-infected xenografts (2 lighter blue colors) while HT-29 xenografts intermingled whether they were from infected or non-infected animals.
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While a- and b- type modules are clearly related, they segregate completely in a ClustalW analysis.
Pedigrees 6, 7 and 8 all carry the same KLHL3 p.L387P mutation that segregates completely with an FHHt phenotype, raising the question whether these families have a common founder.
Chromatin and anaphase bridges are mitotic events that occur when telomeres of sister chromatids fuse together and subsequently fail to segregate completely into their respective daughter cells (Hoffelder et al. 2004; Chan and Hickson 2011).
For the 64 cases without a clear molecular diagnosis, either no interesting variants were detected among the 111 targeted genes (eight cases), the identified variants were predicted to be benign or did not segregate completely (48 cases), or segregating variants were identified, but their pathogenicity remained uncertain (eight samples).
Moreover, implementation of CHEK2 genotyping (and especially presymptomatic testing of relatives) is complicated by the observation that in breast cancer families the breast cancer risk does not segregate completely with the presence or absence of the 1100delC mutation (The CHEK2 Breast Cancer Case-Control Consortium, 2004).
In addition, all cases of inter-specific coinfection resulted in the pathogen species segregating completely among different stems of the host plant, which indicates that the strongest antagonism disallowed coexistence in single meristems from which the separate flowers on a stem are produced.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com