Sentences with phrase «number variant detection»

30/3: 15 The application of the CNVSeq method for whole genome copy number variant detection.

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NextGENe software contains analysis modules for SNP / INDEL resequencing and amplicon analysis and Structural Variant Detection; Whole Genome Alignment; Prediction and Rare Disease Discovery; Copy Number Variation (CNV); RNA - Seq and Alternative Splicing; small RNA and ChIP - Seq Expression Analysis; Metagenomics; de novo assembly.

Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons.

A number of green round bodies were observed, but without specific detection by molecular methods, we can not assert that these are morphological variants of B. burgdorferi.

In tumor samples, where we frequently encounter variants with a very small allele frequency due to contamination with normal tissue, copy number variation, and tumor heterogeneity, high coverage is essential for accurate detection of these variants with high power.