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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…
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Keywords:
read depth;
depthfinder;
representation sequencing;
tool ... See more keywords
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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…
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Keywords:
read depth;
copy number;
number;
receptor ... See more keywords