Essays about: "Deletions"
Showing result 1 - 5 of 25 essays containing the word Deletions.
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1. A Rank Score Model of Variants Prioritization for Rare Disease
University essay from Uppsala universitet/Institutionen för biologisk grundutbildningAbstract : The diagnosis of genetic illnesses has undergone a revolution with advancements in sequencing technology. Next-generation sequencing (NGS) has become a standard practice in genetic diagnostics, enabling the identification of various genetic variations. READ MORE
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2. 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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3. 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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4. Structural variation identification in non-reference cattle breed genomes
University essay from Uppsala universitet/Institutionen för biologisk grundutbildningAbstract : Cattle are essential for the global food industry through the meat and milk production. It is from an economical point of view in our best interest to make cattle as efficient as possible, whether it is milk or beef production, without negatively influencing their health and welfare. READ MORE
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5. Designing the Superplant: Increasing Lipid Signaling for Enhanced Phosphorus Uptake
University essay from Lunds universitet/Tillämpad biokemi; Lunds universitet/BeräkningskemiAbstract : Phosphate is fundamental for optimal growth and reproduction for plants. However, due to low solubility, not all phosphorus in the soil is available to the plant. It has recently been discovered that plants can take up complex phosphate-containing organic compounds, such as phospholipids. READ MORE