Sentence examples for variants and large from inspiring English sources
Four studies recently demonstrated correlations between genetic risk variants and large clusters of active enhancers, similar to locus control regions.
Motivation: Association tests based on next-generation sequencing data are often under-powered due to the presence of rare variants and large amount of neutral or protective variants.
VAS is specially designed to handle annotation tasks with long lists of genetic variants and large numbers of annotating features efficiently.
However, ethnic differences have been reported for both the promoter and structural variants, and large inter-individual variations in the level of MBL can be explained by the promoter variants [ 22].
> -wrap-foot> In order to determine whether SDHx variation and PTEN mutation are mutually exclusive or can occur together, we examined a nested series of 444 PTEN mutation-positive CS/CSL patients (Supplementary Material, Table S2) with germline PTEN mutation/variant, including promoter variants and large insertions/deletions, regardless of the MnSOD status.
Single nucleotide variants, and large-scale amplifications and deletions of chromosomal regions have been identified as two of the main driver alterations in human tumors.
Nonetheless, studies with rare variants and larger sample size are needed to validate our findings.
Our sample size therefore is appropriate for the purpose of the analysis, and large enough to allow stratified and interaction analyses, especially to find even small interaction effects with the most frequent variants, and larger interaction effects for less common variants.
Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change.
A detailed description of the assay process is also provided in Materials and Methods in Additional file 1. Variant and large rearrangement detection was performed on sequences from BRCA1 and BRCA2.
VarSim simulates and validates a wide range of variants, including single nucleotide variants, small indels and large structural variants.
