DepthFinder: a tool to determine the optimal read depth for reduced-representation sequencing
Sign Up to like & getrecommendations! 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
MhGeneS: An Analytical Pipeline to Allow for Robust Microhaplotype Genotyping
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Ecology Resources"
DOI: 10.1111/1755-0998.14027
Abstract: Microhaplotypes are small linked genomic regions comprising two or more single‐nucleotide polymorphisms (SNPs) that are being applied in forensics and are emerging in wildlife monitoring studies and genomic epidemiology. Typically, targeted in non‐coding regions, microhaplotypes… read more here.
Keywords: read depth; microhaplotype genotyping; mhgenes analytical; analytical pipeline ... See more keywords
Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR
Sign Up to like & getrecommendations! 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