Sentence examples for location of variants from inspiring English sources
However, as well as describing the location of variants, pipelines must also try and interpret their biological consequences.
These findings suggest that the population-specific associations were dependent on the location of variants in RGS17.
Finally, the user can provide two alternative sequences (wildtype and mutant), and the system will determine the location of variants to be analyzed by comparing them.
Even though the phenotypic analysis was not conducted under natural conditions or in nature itself, the associations strongly suggest the location of variants that have a robust effect on complex traits.
Analysis of the location of variants in assembled RHA 464 contigs indicated no significant bias in allele detection: most SNPs were identified between 100 and 300 bp from the start of each contig.
For instance, in Figure 1A, it is unclear where the location of variant C is.
Information regarding the location of variant calls is generated in VCF files.
PVT1 is a non-coding RNA that has been shown to be the location of variant t(8 22) breakpoints in Burkitt's lymphoma, as well as generating fusion genes with WWOX and NBEA in myeloma patients with an 8q24 rearrangement.
Other tools aimed at detecting low frequency variants include Segminator II [ 31] which is specialised towards temporally sampled data, V-Phaser which utilises information on the co-location of variants on reads [ 32, 33], Lo-Freq which utilises quality scores to model base miscalls [ 34], and an approach which incorporates re-sequencing with reads distribution and strand bias [ 35].
We applied aa2nt to a selected set of variants from three commonly used databases (OMIM, HGMD and dbSNP) to evaluate whether we could correctly resolve the locations of variants in current annotation databases.
Considering data from all individuals simultaneously, we used SAMtools [ 32] version 0.1.18 to identify the locations of variants, using the option "-C 50" to reduce the mapping quality of the reads with multiple mismatches.
