Sentence examples for small variants in from inspiring English sources

Iona Opie made hanging around schoolyards to find small variants in jumping-rope rhymes seem essential to understanding humanity, and Izzy Stone made you feel unpatriotic for not printing your own biweekly page of political commentary.

To call small variants in our dataset, Master Variation Files (MasterVar) were generated using CGAtools and hg19 as reference.

Insertions and Deletions were present in similar numbers among the three genotypes, and proportionally, these variants represent approximately 8% of the small variants in 'F8,1-42 'F8,1-42'Georgia Belle' and 10% in 'Dr. Davis'.

Sanger sequencing was used to assess small variants of interest in our dataset [28].

We demonstrated VarSim's completeness in both simulation and validation by simulating NA12878's personal genome with small variants from genome in a bottle (GiaB) high-confidence regions (Zook et al., 2014), and with SVs from 1000 genomes (Mills et al., 2011) and DGV (MacDonald et al., 2014).

Pathogenic 22q11.2 deletions were detected in 39 of 818 patients with CHD, which included 22q11.2 duplication in 1 patient, small variants of uncertain significance (VUS) in 20 patients, and sub-chromosomal copy number aberrations in genomic loci other than 22q11 in 5 patients.

Reads that were derived from CNV duplications in the target genome and that mapped onto the corresponding reference paralogues resulted in the prediction of more false small variants because the copies in CNV regions of these reference sequences do not always have identical sequences.

Bioinformatics analysis of small variants yielded seven point mutations present in pro44 but not in the other samples.

This pipeline uses RNA-seq data to characterize a tumor in three ways: small variants, gene fusions, and gene expression.

Stage 1 analysis examined ∼18.8 million SNPs and small insertion/deletion variants in 129,913 individuals from four ancestries (European, African, Asian, and Hispanic) with follow-up analysis of promising variants in 480,178 additional individuals from five ancestries.

In a second article, Gitomer et al investigate and discuss the potential contribution of S. aureus small colony variants in recalcitrant CRS.