Sentence examples for population frequency data from inspiring English sources

The accuracy of this predictor provides support for the clinical use of automated predictions alongside family segregation and population frequency data in the interpretation of new missense variants and suggests future development of similar tools for other diseases.

Therefore the ESS-pentaplex provides an ideal adjunct to Identifiler or MiniFiler to allow laboratories to assess the new STRs alongside existing standard loci, measure performance with challenging material and generate population frequency data ahead of a final decision on which additional STRs will extend the reconfigured CODIS core set.

Population frequency data were available for 11 of the 45 SNPs (see supplementary data Table S2).

INDELs were excluded from this analysis due to a lack of population frequency data.

21 potential STEPs had EST evidence of intron retention or exon extension, as well as population frequency data for comparison.

A final set of 15 candidates was returned with positive results for both search methods and population frequency data to check for a real SNP.

Individual variants are annotated with VEP data including population frequency information from dbSNP (Sherry et al., 2001) and the 1000 genomes project (Genomes Project et al., 2010) as well as SIFT (Kumar et al., 2009) and PolyPhen2 (Adzhubei et al., 2010) scores for estimating the functional effect of missense mutations.

Although none of the frameshift variants reported in the SNP database was found in the population-frequency data, most of them were reported in multiple independent studies.

The Chao1 statistic [34] estimates the total number of types in a population using frequency data on types seen once only and types seen twice only.

For example, the availability of large population variant frequency data has led many "uncertain significance" variants to be re-classified as benign, and testing additional family members may result in the re-classification of variants.

The approach we presented here estimates two parameters, the sensitivity and the specificity of variant calls in a next-generation sequencing experiment, by comparing the observed variants with population allele frequency data in a maximum likelihood framework.