Sentence examples for combined variants from inspiring English sources

GATK (The Genome Analysis ToolKit, version 3.5) Haplotype Caller and VarScan (v2.4.2, mpileup2snp and mpileup2indel with –min-reads2 10 –min-var-freq 0.01) were used to call variants for all samples and the combined variants of which were then divided into indels and SNVs by SelectVariants.

As in [34], we combined variants of these three genes and analyzed them together.

EGFR combined variants include patients with genotypes Arg/Lys or Lys/Lys for R497K and Long/Long for (CA)n.

For VariantMetaCaller, we ordered the combined variants first by decreasing SVM score and then by decreasing mean read depth.

We next combined variants identified from next-generation sequencing and Sanger sequencing and tested their association with the disease using data from 1000 genomes and NHLBI as controls.

Some studies had demonstrated that CMC, WSS and VT would encounter the loss of power when the direction of effects in the combined variants is not consistent, or when a small fraction of variants are associated with disease, as compared to single marker testing [ 39, 40].

In both PR subgroups (i.e., –ve and +ve), they have a significant association of the combined variant.

In L.N. subgroup there was a significant distribution of the combined variant frequency (P = 0.04), Table 3.

The combined variant was found to associate also with reduction of ATM protein level in lymphoblast cells.

**: For the estimation of the variant allele effect, the score variable indicating the number of combined variant alleles (0, 1, 2, 3 and 4) was considered as continuous.

The haplotype 8 contains only the combined variant 5557G>A, ivs38-8T>C, whereas the haplotype 13 contains also the missense variant 998C>T (S333F) in exon 10.