Sentence examples for variants when they from inspiring English sources

As the physical distance increases, the differences between the impact scores for DAVs and CPPs generally become more evident, i.e., pathogenic variants can be distinguished from non-pathogenic variants when they are located further apart (Fig. 2a).

Lee and colleagues found the same short variants when they analysed genomic DNA from the neurons, suggesting that APP-variant mRNAs might be transcribed from matching genomic DNA sequences — named genomic complementary DNAs (gencDNAs) by the authors — that had become permanently embedded in the genomes of neurons.

With what degree of certainty can we predict the impact of even known pathogenic variants when they are identified as incidental findings [ 10], [ 11]?

In addition, it is possible that H2B isoforms produced outside of S-phase associate with other replication-independent variants when they are assembled into chromatin.

In many cases, it is not possible to interpret the significance of these variants when they are first identified and they become Variants of Unknown Significance (VUSs).

Polymorphisms that occur at the highly conserved donor and acceptor di-nucleotides are an obvious case in which we expect an effect on splicing [ 5] and these genomic variants, when they occur close to verified exon boundaries, tend be annotated in databases of sequence polymorphisms, such as dbSNP [ 6].

Therefore, the pathologists must be aware of this variant when they evaluate surgical specimens and urologists must discuss with their pathologists the possibility of the presence of such a variant when they receive a report indicating low grade disease yet the clinical presentation is not compatible.

Skoglund-Lundin et al. [ 11] did not detect a significant association between CRC risk and the Int7G24A variant when they analysed data from cases with a familial history of colorectal cancer.

No matter how large, virus definition databases don't seem to account for the growing number of new malware species and variants, especially when they're smart enough to evade discovery.

Additionally, the assay was able to correctly discriminate carriers from non-carriers of these variants even when they were part of genotypes that contained non-addressed alleles.

On the other hand, the tools still fail to identify some genetic variants, mainly when they do not follow the HGVS format, as is the case in the supplementary material in InSiGHT.