Sentence examples for actual variant from inspiring English sources

Finally, the actual variant calling is done using either the HaplotypeCaller or UnifiedGenotyper module.

Finally, instances of these tools are created in order to perform the actual variant calling.

BCFtools then applies the prior and does the actual variant calling.

In other words, the sensitivity is limited by the actual variant caller used, which, in this case, is GATK UnifiedGenotyper.

Reasons for lack of replication include limitations of sample size, rarity (low minor allele frequency) of actual variants, and small true effect sizes.

For the pairwise IBD statistics, the background rate of IBD provides noise; for the clustering statistics, IBD clusters that do not represent actual variants provide noise.

This methodology tends to result in the creation of a database that comprises either verbatim and/or often inconsistent records of the disease-associated variants, or merely a list of PubMed citations rather than the actual variants in question.

Implementation of GATK [ 54] for correction of local misalignment was effective in correcting such misalignments, and resulted in the elimination of numerous artifactual variants while increasing the read counts of some actual variants.

E) Final read pools were created by randomly drawing reads to different coverage depths; these read pools were mapped back to each "sample's" original "reference", and called variants were compared to actual variants.

Given that HCV is mainly transmitted through blood, which actual variants are transmitted from the same source to different recipients can vary depending on the viral population circulating at the moment of infection.

The mismatches between HD and sequence data suggests that the best calls based solely on individual sequence information, does not necessarily represent the actual variants, which might cause a negative bias in the assessment of imputation accuracy.