Sentence examples for variation detection for from inspiring English sources

Given the growing market of commercial platforms and an anticipated expansion of software solutions, we can expect it to have a bright future in vertebrate genome sequencing and human variation detection for genomic medicine.

Results: We present VARiD a probabilistic method for variation detection from both letter- and color-space reads simultaneously.

Here, we present BS-SNPer, a program for BS-Seq variation detection from alignments in standard BAM/SAM format (Li et al., 2009).

We also demonstrated that our NGS-based strategy is highly sensitive and reliable for variation detection, and could be applied to screening for other genes.

Although many methods have been proposed for structural variation detection, most do not provide precise boundaries for identified variants.

The large size of the candidate regions and the high number of genes described within them, led us to couple linkage analysis with high-throughput sequencing-based mutational screening as a new strategy for variation detection.

Number of sequenced clones too low for variation detection with high power.

The sequencing quality was considered to be appropriate and the data were sufficient for variation detection.

We did not use the Pacific Biosciences reported base quality scores because their systematic underestimation of base qualities makes them less effective for variation detection.

In the previous subsection, we described a simplified HMM for variation detection that can use both color- and letter-space data.

Most tools for variation detection (Li et al., 2008a, 2009; Marth et al., 1999) combine a detailed data preparation step, in which the reads are filtered, realigned and often rescored, with a nucleotide or heterozygosity calling step, typically done using a Bayesian framework.