Sentences with phrase «detect copy number»
Not exact matches
Lacking money to outfit the new lab, Wang and Xin bought used equipment: a single channel DNA sequencer (bought and barely touched by a Harvard Medical School researcher); second - hand centrifuges and pipettes; a reconditioned CytoScan HD system that detects variations in the number of copies of a gene.
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BROCA detects all single base substitutions, insertions and deletions and copy number variants in all 24 genes implicated in breast cancer.
Also, by directly comparing exome sequence depth, VarScan 2 detects changes in copy number in the tumor relative to the normal.
The software, called DECoN, accurately and quickly detects changes in copy number of blocks of DNA called exons, by analysing sequencing data already generated to identify smaller gene changes.
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.
As an example, skeletal malformations and dysplasias, often detected through routine prenatal ultrasound examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety of genetic aberrations, ranging from copy number variations to single gene mutations.
Thus, we apply circular binary segmentation (CBS) to smooth the data and detect significant copy number change - points.
Using this technology, we screened 31 patient samples across an array containing a total of 162 exons for five disease genes and detected copy - number changes, ranging from whole - gene deletions and duplications to single - exon deletions and duplications, in 100 % of the cases.
33/4: 00 A method for detecting intragenic copy number changes of BRCA1 and BRCA2 using next - generation sequencing data.
Molecular phenotypes, such as copy number variations and structural variations can be detected, quantified and analysed in similar ways.