Sentence examples for variants and small from inspiring English sources
We looked for somatic mutations by identifying previously characterized single-nucleotide variants and small insertions or deletions in 160 genes that are recurrently mutated in hematologic cancers.
Rapid heme panel's average coverage is 1500× with <5% of the amplicons with <50× coverage, and it reproducibly detects single nucleotide variants and small insertions/deletions at allele frequencies of ≥5%.
Single nucleotide variants and small insertions and deletions were called using the CLC Genomics workbench.
The latter group is made of large structural variants and small repetitive sequences.
We identified single nucleotide variants and small insertions and deletions (indels) with the Genome Analysis Toolkit (GATK) HaplotypeCaller [ 16].
Single nucleotide variants and small insertions and deletions were called using the quality-based variant calling and subsequently annotated prior to exporting the resulting variant lists for filtering.
This is a sizeable proportion, especially given other potential contributors to genome size differences, such as chromosomal knobs, copy number variants, and small-scale insertions and deletions (Laurie and Bennett 1985; Kato et al. 2004; Springer et al. 2009).
Thus, the wAnaITG genomes had an increased number of polymorphic sites with single nucleotide variants and small-sized INDELs that were predicted to cause a strongly deleterious effect (i.e., nonsense mutation and frameshift mutations) in a functioning wAna genome.
Such variance leads to an excess of low frequency variants and smaller peaks in the total SFS compared to Kingman's coalescent model; this effect is larger for small α values (light-gray lines Figure H in File S1).
Somatic variant, germline variant, and small deletions and insertion calling was performed within the Firehose environment at the Broad Institute with the previously published MuTect, MapReduce, and Indelocator algorithms [ 27- 30].
We used SAMtools (version 0.1.12a) to call variants (substitutions and small indels) from the alignments generated above.
