Sentence examples for variant read from inspiring English sources

For coverages above 30-fold one variant read was accepted.

Less stringent criteria were used for calling control tissue variants with a minimum of one variant read and a minimum coverage cutoff of 5.

We next compared the results of 454 and Sanger sequencing for the detection of heteroplasmic variants defined as having 80% or less variant read frequency after excluding erroneous reads from a homopolymer.

These included four of 412 concordant substitutions (3243Avariant read frequencies of 19% to 64% and two of seven discordant substitutions (16093T>C and 7501T>C) with frequencies of 14% and 18% (Table 2).

There were 966758 sites that only had one variant read for repeat differences and 1675976 sites that only had one variant read for SNP differences.

INDELs with variant read ratio between these values are considered ambiguous.

For assessment of heteroplasmy, we developed criteria based on variant frequency, the number of variant reads divided by the total number of unique sequencing reads.

For 8473T>C, the discordance may be from masking of variant reads by erroneous 454 reads due to the formation of a six base homopolymer (Table S1).

Rather than applying a rigid cut-off rate for heterozygous variant reads across all loci (e.g. >30% variant reads), the optimal calling threshold was defined as that frequency which maximizes the number of correct NGS genotype calls (based on comparison to Illumina genotyping data).

Firstly, Figure 3 shows a graph of the percentage concordance (percentage of reads with identical variant sequence) of the variant reads as a function of depth of coverage for the respective position on the genome.

Multiple sequence alignment of all retrieved sequences was performed using ClustalX [30] to identify and remove duplicate, splice variant, reading frame shift, truncated or otherwise non usable MS4A sequences from the dataset.