Sentence examples for variants and variants from inspiring English sources

Overall, the majority of CDH1 germline variants are truncating CDH1 mutations, followed by missense variants, and variants affecting splice sites [3, 9].

At the same time, we found substantial allelic heterogeneity within shared loci, characterized both by population-specific rare variants and variants shared among multiple populations that occur at disparate frequencies.

We first removed nonexonic variants and variants indicated as synonymous.

Known pathogenic variants and variants with a reported population prevalence <1% were identified.

To minimize this problem, we limited our analysis to in-gene variants and variants with known cis-eQTL effects.

The value of WGS will further increase as clinical evidence becomes available for additional variants, particularly copy number variants and variants in non-coding regions.

Genomic medicine often relies on well established catalogs of specific variants and variant databases to substantiate conclusions about rare variants.

During the PhAESIS evaluation process, gaps in scientific and clinical evidence for specific gene variants and variant combinations are highlighted for further study.

Further consideration for the choice of the visualization tool is the possibility to handle the data format used in previous analysis methods for reporting variants and variant annotations.

This strategy infers and interprets genetic interaction data in terms of quantitative variant-to-variant and variant-to-phenotype influences, rather than non-directional epistasis.

There was no difference in the mean age of subjects with KRAS non-variant and variant alleles (Table 1).