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Only monoclonal antibody FH6 (antisialyl-dimeric Lex) bound more to the metastatic variant compared with HT-29 P. Detergent extracts of human tissues were then assayed for their FH6-binding activity.

But, Hakonarson says, the work is exciting for two reasons: 65% of kids in the study had that variant, compared with just under 60% in the control group--a difference that, across a population, is significant, he says.

Mean CL, the volume of serum antibody cleared per unit of time, was approximately 1.2-fold lower for the YTE variant compared with WT in mice (WT, CL = 0.01063 ± 0.0029 mL/min/kg; YTE, CL = 0.00897 ± 0.00224 mL/min/kg; P < 0.05; Table 1, Fig. 1E), indicating a significant decrease in the clearance of the YTE variant.

The scientists found a "significant" difference between the women whose water broke early and the women whose babies were born at term: Among the women with PPRM, 11.5 percent of fetuses had the key genetic variant, compared with 4.5 percent in the non-PPRM group.

Heterozygotes of the KIF6 Trp719Arg variant, compared with Trp/Trp homozygotes, were at increased risk of nonfatal MI (OR = 1.16), but this association would not be significant after a multiple testing correction.

The selective advantage of an escape variant compared with the wild type was estimated from longitudinal viral sequence data showing the replacement of the wild type by the escape variant [30].

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Of note, 2.7% of children previously assessed with a clinical grade comparative genomic hybridization microarray were found to have pathogenic copy number variants, compared with 6.1% of those with no previous clinical grade microarray.

They further examined top candidate regions of OXTR in additional 312 healthy individuals, and found ASD individuals carries a higher burden of rare variants compared with the healthy individuals.

In addition, our burden analysis showed that ASD individuals carried an overall higher burden of rare variants compared with healthy individuals, which is particularly interesting and supports that the rare variants might be another important component to the pathogenesis of ASD.

The hyperdiploid leukaemia karyotype was highly over-represented in ALL cases harbouring germline ETV6 risk variants compared with the wild-type group (nine [64%] of 14 cases vs 538 [27%] of 2007 cases; p=0·0050).Our findings indicated germline ETV6 variations as the basis of a novel genetic syndrome associated with predisposition to childhood ALL.

The YORA patients were also more frequently carriers of the PTPN22 T-variant compared with LORA patients.

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