Sentence examples for high quality variants from inspiring English sources

SNPs and indels with quality scores > 20 and depths > 15 were considered high quality variants.

Thus, in order to create a list of high quality variants only homozygous calls were considered for further analysis.

Out of these high quality variants 96% were previously reported by dbSNP build 137 [ 13] and 98.4% by 1000 Genomes Project [ 14, 15].

First, no new high quality variants (alleles not present in either parent) were found in the 72 recombinants, suggesting that new mutations are uncommon.

We created a final selection of 616,201 high quality variants based on their assay performance, physical distribution, and concordance with in silico variant calls from sequencing data.

High quality variants (with coverage >=10x and MQV>=20) were annotated and filtered using the SNP and Variation Suite (SVS) version 7 from Golden Helix.

3,039 high quality variant sites were identified and used to create a maximum likelihood phylogenetic tree.

After obtaining a high quality variant set, we performed a genotype-refinement protocol, as described in (http://gatkforums.broadinstitute.org/discussion/4723/genotype-refinement-workflow .org/discussion/4723/genotype-refinement-workflow .org/discussion/4723/genotype-refinement-workflow

This must be weighed against increased test cost, delayed turn-around time, and the potentially paralyzing failure to confirm a very high quality variant of clinical significance.

To obtain the high quality variant calls, we removed all variants that were called with a quality score below 100 in addition to all variants that were called as heterozygous, since we expected these haploid genomes to yield homozygous calls.

For high quality variant selection, a total of 523,154 variants classified as "PolyHighResolution" (PHR) with and without inbred correction were directly forwarded to the final list as they were characterized by distinct and narrow clusters in both analyses.