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31	SNPs and Indels Analysis in Human Genome using Computer Simulation and Sequencing Data Chakrabortty, Sharmistha January 2017 (has links) No description available. Bioinformatics Biomedical Research Genetics Evolution and Development SNP Indel Whole Exome Sequencing Evolutionary Genetics Population Genetics Genetic Variant Retinal Dystrophy Next Generation Sequencing Recombination Rate Genetic Diversity Natural Selection Forces Mutation
32	Detecting structural variants in the DNA of the inbred Scandinavian wolf Huson, Lars January 2023 (has links) Only 40 years ago, just three individuals made the journey from Finland/Russia to found the current wolf population in the southwest of Sweden. This population, that to this date descends from less than 10 founders, has a substantial increased extinction risk due to inbreeding. Several previous studies have used SNPs to monitor the level of inbreeding and homozygosity in the population, as well as measure immigration and the inflow of new genetic material. This study uses both short- and long-read data to discover structural variants (SVs) and small indels in the population, so that they may be used to extend the analyses and provide more insight into the current state of the Scandinavian wolf population. After the calling of the SVs, strict filtering and manual curation were applied to the data, thereby removing many false positive calls and increasing confidence in the remaining SVs. Short-read and long-read SV-callers found 31,800 and 57,821 SVs respectively, with relatively little overlap between the two sets. By far, the most common SV-types were deletions and insertions, at about 30,000 each with varying length ranging from a 50 base pairs to several tens of Mbp. Analyses on the data, such as PCAs and parent-offspring trio analyses, reveal high-confidence calls and consistent results between SV-types and SV-callers, as well as a low estimated genotyping error rate. PCAs performed on the SVs resembled those performed on SNPs, which strengthens the credibility of the identified variants. Finally, this study suggests several alternative steps for possible improvement to the dataset, along with some proposals for subsequent research topics that may use the variants discovered in this study. animal animal population bioinformatics biological sciences biology Canis lupus CNV conservation genetics conservation genomics copy-number variation DNA endangered population endangered species evolution evolutionary biology extinction genetic diversity genetics genetic variation genomes genomics grey wolf inbreeding inbreeding depression indel mutation pedigree population genetics population genomics Scandinavia smoove snakemake structural variant SV wolf wolves Bioinformatics and Systems Biology Bioinformatik och systembiologi Genetics Genetik Evolutionary Biology Evolutionsbiologi

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SNPs and Indels Analysis in Human Genome using Computer Simulation and Sequencing Data

Detecting structural variants in the DNA of the inbred Scandinavian wolf