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FitSNPs are a collection of variants gleaned from exhaustive searches of public expression data and are highly likely to be functionally relevant SNPs (but are not associated with a specific disease or phenotype).
SNAP was trained on a collection of variants in different types of proteins (>80,000 mutations in >6000 proteins); transmembrane proteins were less common than water-soluble globular proteins.
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First, we examined the overlap between the recalibrated sorghum WGS variants and a collection of reliable variants that were not used to train the VQSR models.
Efficacy of RIG was determined by comparing the variant calls produced by RIG from publicly available Arabidopsis WGS data against a collection of known variants from Sanger sequence data and variants present in the Gramene database (build 43; accessed January 2015) (Nordborg et al. 2005; Cao et al. 2011; Schmitz et al. 2013; Monaco et al. 2014).
For the sorghum data, we compared the variants called from sorghum WGS data via the RIG workflow to (i) a collection of reliable variants that were not used to train the VQSR models and (ii) a previously published sorghum variant calling analysis.
If there are variants that confer protection as well as risk, both will tend to be included, but this is a fundamental problem of testing a collection of rare variants.
Two of these three features, BQSR and VQSR, require a collection of reliable variants to function effectively, and their benefits are inaccessible without such a resource.
There is further evidence that a collection of susceptibility variants may help to stratify the population into risk categories that can guide screening delivery programs.
Independent HCV isolates of a given subtype typically differ by 6%to10%0%, and genetic variation between viral genomes within an individual is usually 1%to3%3% because of the replication of HCV as a quasispecies (that is, a collection of genetic variants that clusters around a master sequence and that evolves as a unit [ 4]).
We further stratify the concordance analysis within genic, non-genic, and a collection of validated variant regions.
In particular, one genome (NA12878) was used to generate a collection of quality variant metrics (see Methods and Additional file 4: Table S3 for details).
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