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Likelihood ratios showed that dialect was a significant factor for determining variant distribution in both contexts [rounded: χ2(3) = 10.82, p = .01; unrounded: χ2(3) = 12.28, p < .01].01]
Second, CG was highly precise in determining variant size, with the exception of overcalling by the read-depth approach.
Our data emphasize the need for genotyping large sample sizes of diverse populations as a basic tool in determining variant pathogenicity.
In the context of previous work [ 1], our study emphasizes the importance of investigating large sample sizes of diverse populations as a basic tool in determining variant pathogenicity.
This SNP is located in TOMM40 gene, close to APOE gene and, even if it displays only a moderate linkage with APOE ε 4 determining variant, authors report an APOE dependent effect of rs2075650 on longevity.
A standard gene variant nomenclature (http://www.hgvs.org/mutnomen) is maintained and versioned by the Human Genome Variation Society (HGVS) and its use is recommended as the primary guideline for determining variant nomenclature except as noted.
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The idea is that each contract will be a locally determined variant on a public-private partnership.
Since 2002, genogroup 2 genotype 4 noroviruses have been characterised to determine variant diversity based on by partial sequencing of the gene encoding the virus capsid.[21].[21]
As described below, this empirically determined variant calling approach improved the overall sensitivity to detect variants compared to the standard HCDiff variant detection algorithm, particularly at low coverage targets (Fig. 3A).
For example, ClinVar, HGMD and OMIM annotations are critical to determine variant pathogenicity.
Second, SNVs called according to the alignment results were compared to the actual generated variants, to determine variant calling performance.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com