Sentence examples for define variant from inspiring English sources

This approach takes into consideration the limited ability of Affymetrix platform to precisely define variant breakpoints and the difference between the discovery and the validation platform probe length (25-mers versus ∼60).

A non-skeptical reading of the literature would define variant SCN5A-G615E as a known pathogenic variant.

We define variants that change coding sequences among species as critical variants.

To define variants as "expected pathogenic" we used the criteria previously described.

The DA and F344 genome assemblies also used stringent quality criteria to define variants.

We identified a three amino-acids deletion and two sites (one in the WPP domain and one in the LRR domain) that should help to define variants of interest.

Since our aim was to define variants that could be genotyped by a GoldenGate assay with genomic rather that transcriptomic samples, we excluded from consideration probe sequences that spanned a putative exon-exon boundary.

We defined variant accuracy (VA) as the percentage of homoplasmic and heteroplasmic variant calls by Sanger that were concordant with 454 vs. total number of variants found by both technologies; we calculated variant accuracy as VA  =  (B2 + C3) / (A2 + A3 + B2 + B3 + C2 + C3).

We also defined variant status as inherited or de novo for those with available parental sequence data.

As noted above, when the new dbSNP build is released, Ensembl is updated with the dbSNP defined variant positions.

Its scalability allows further computational extensions, such as the wrapping of VariantMetaCaller into an expectation-maximization framework that iteratively refines the heuristically defined variant status used for training.