Results: We present ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence reads, and ...
Oct 1, 2011 · We present ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence reads.
Jul 16, 2018 · To address these issues, several computational methods have been proposed to identify CNV from exome sequencing samples, including ExomeCNV (16) ...
ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence reads, is presented and ...
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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Sathirapongsasuti, Jarupon Fah; Lee, Hane; Horst, Basil A J ...
Mar 5, 2020 · In this study, we evaluated the performances of four WES-based CNV tools, and established a guideline for the recommendation of a suitable tool according to ...
We present ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence reads, and we ...
Whole-exome sequencing quickly can become an excellent strategy in the routine diagnosis of patients with a developmental delay and/or multiple congenital ...
May 31, 2017 · If the tumor purity is given in advance, ExomeCNV will use it to compute copy numbers. It also can detect loss of heterozygosity (LOH) if BAF ...
Copy number variations (CNVs) are genomic alterations that result in abnormal copies of one or more genes. Structural genomic events such as duplications, ...