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Showing result 1 - 5 of 10 essays matching the above criteria.
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1. Detecting structural variants in the DNA of the inbred Scandinavian wolf
University essay from Uppsala universitet/Institutionen för biologisk grundutbildningAbstract : 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. READ MORE
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2. Filtering of Clinical NGS Data to Improve Low Allele Frequency Variant Calling
University essay from Uppsala universitet/Institutionen för biologisk grundutbildningAbstract : Massive parallel sequencing (NGS) is useful in detecting and later classifying somatic driver mutations in cancer tumours. False-positive variants occur in the NGS workflow and they may be mistaken for low frequency somatic cancer mutations in a patient sample. READ MORE
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3. Implementing ExomeDepth with a variant filter as a CNV-calling tool for germline clinical diagnostic testing
University essay from Högskolan i Skövde/Institutionen för biovetenskapAbstract : Copy number variations (CNVs) cover approximately 4.9 - 9.5% of the human genome. CNVs are involved in both the development of disease and evolutionary adaptions. READ MORE
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4. Preprocessing of Nanopore Current Signals for DNA Base Calling
University essay from KTH/Skolan för elektroteknik och datavetenskap (EECS)Abstract : DNA is a molecule containing genetic information in all living organisms and many viruses. The process of determining the underlying genetic code in the DNA of an organism is known as DNA sequencing, and is commonly used for instance to study viruses, perform forensic analysis, and for medical diagnosis. READ MORE
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5. Whole-Genome Sequencing of two Swedish Individuals on PromethION
University essay from Lunds universitet/Examensarbeten i bioinformatikAbstract : Background: Chromosomes can undergo various changes such as deletions, inversions, insertions, and/or translocations resulting in structural variation differences between individuals. Structural variants are a common source of variability in the human genome and have been known to be associated with common diseases such as autism, cancer, and rare human diseases [1, 2]. READ MORE