Sentence examples for evaluated variant from inspiring English sources

The most frequently evaluated variant in relation to cancer risk is the single nucleotide polymorphism (SNP) at codon 148 of exon 5 of the APE1/Ref-1 gene (i.e. Asp148Glu; D148E; rs1130409).

To make clear the viability of low-coverage sequencing, the present study evaluated variant calls from low-coverage sequence data using the LD-aware calling software Thunder and the single- and multi-sample calling options in Unified Genotyper.

However, several other studies have already evaluated variant detection sensitivity with exome data and identified numerous factors that influence variant detection sensitivity including coverage, quality of alignment and mapping, duplicates, strand bias, and type of algorithm used [ 5, 27- 29].

Based on the elucidated sequence requirements, we designed and evaluated variants to improve the efficiency and solubility through sequential modification of TCTP PTD.

Among the evaluated variants, G33 could be considered for inclusion in the cultivar development program for red rice with high yield potential and resistance to blast disease.

Sianesi (2004), Carling and Richardson (2004), Fredriksson and Johansson (2008), and Forslund et al. (2004) evaluated variants of a program that provided employer subsidies of up to 50percentt of earnings for firms that hired the long-term (more than 6 months) unemployed.

The primary focus so far in the area of renal cancer susceptibility has been on genetic variants in xenobiotic metabolism genes [12], [44] and the von Hippel-Lindau (VHL) gene, which leads to an increased risk of the hereditary form of renal cancer [45], Only three small studies have evaluated variants in PPARG and VEGF in relation to renal cancer.

There were seven observational studies, six of which evaluated variants of the Program of All Inclusive Care for the Elderly (PACE) [ 45- 51].

Instead, we evaluated variants in vitamin D activity and major metabolism (VDR, CYP27B1, and CYP24A1) in relation to breast cancer risk, particularly in relation to self-reported race and estrogen receptor status.

Further studies are required in order to benchmark the performance of the variant callers either by using an exome or genome-scale size simulation data set or a large number of experimentally evaluated variants by Sanger re-sequencing as shown recently [ 113].

Our aims were: (1) to identify all mtDNA variants and potential mutations; (2) to evaluate variant detection performance by comparing Roche 454 pyrosequencing and Sanger sequencing technologies; and (3) to estimate the amount of sequence coverage needed to detect homoplasmic and heteroplasmic mtDNA mutations or variants.