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The era of genome-wide high throughput technologies has sparked the initiation of genotype screenings in large cohorts of diseased and control individuals, but had limited success in identification of disease causing genetic variants.
Hence, splicing functional assays supply essential information to distinguish between neutral variants and variants with an impact on splicing and should be incorporated in genotype screenings of human hereditary diseases.
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Sub1 and Pup1, as well as the drought QTLs, have been identified by forward genetic approaches using tolerant rice genotypes, and screenings were mainly conducted under field conditions.
Four rice genotypes selected from earlier screenings (Ismail et al. 2009; Angaji et al. 2010; Ella et al. 2010) were used.
Individual males were anaesthetized on ice and their left middle tibia was removed 2 weeks prior to the mating trials, to yield DNA for pre-screening microsatellite genotype (n = 96).
Samples that passed the pre-screening were genotyped for 1152 previously validated transcriptome-derived SNPs (Moen et al. 2008; Nielsen et al. 2009; Hubert et al. 2010; Bowman et al. 2011; Hemmer-Hansen et al. 2011).
The HPV16/18 genotyping of hrHPV-positive women at baseline did not result in sufficient low risks for a screenings programme with 5 years interval.
13 When females were included in screenings using the FST, many studies reported a low performance of the qualitative test compared with genotyping, with a low assessed sensitivity (lower than 45% in some studies); in a few studies, a specific intermediate phenotype had to be added to the results to increase sensitivity.
Samples were genotyped using polymerase chain reaction (PCR) at nine to ten human-derived MapPairs microsatellite marker loci found in initial screenings to amplify reliably and to be variable in this baboon population.
| Special screenings.
IMAX screenings!
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