Articles with "read depth" as a keyword



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DepthFinder: a tool to determine the optimal read depth for reduced-representation sequencing

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Published in 2020 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btz473

Abstract: MOTIVATION Identification of DNA sequence variations such as single nucleotide polymorphisms (SNPs) is a fundamental step towards genetic studies. Reduced-representation sequencing methods have been developed as alternatives to whole genome sequencing to reduce costs and… read more here.

Keywords: read depth; depthfinder; representation sequencing; tool ... See more keywords
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Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR

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Published in 2019 at "BMC Biotechnology"

DOI: 10.1186/s12896-019-0523-9

Abstract: BackgroundCopy number variation (CNV) plays an important role in human genetic diversity and has been associated with multiple complex disorders. Here we investigate a CNV on chromosome 10q11.22 that spans NPY4R, the gene for the… read more here.

Keywords: read depth; copy number; number; receptor ... See more keywords