Sökning: "Deletions"

Visar resultat 1 - 5 av 31 uppsatser innehållade ordet Deletions.

1. 1. A Rank Score Model of Variants Prioritization for Rare Disease

   Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

   Författare :Nanxing Liu; [2023]
   Nyckelord :machine learning; variants; rare disease;

   Sammanfattning : 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. LÄS MER

3. 2. Detecting structural variants in the DNA of the inbred Scandinavian wolf

   Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

   Författare :Lars Huson; [2023]
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

4. 3. Filtering of Clinical NGS Data to Improve Low Allele Frequency Variant Calling

   Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

   Författare :Tomas Cumlin; [2022]
   Nyckelord :Next-generation sequencing; Variant calling; Clinical sequencing; Substitution error; Cancer sequencing; Error rate; substitution; Somatic mutation;

   Sammanfattning : 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. LÄS MER

5. 4. Structural variation identification in non-reference cattle breed genomes

   Uppsats för yrkesexamina på avancerad nivå, Uppsala universitet/Institutionen för biologisk grundutbildning

   Författare :Jenny Jakobsson; [2021]
   Nyckelord :;

   Sammanfattning : 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. LÄS MER

7. 5. Designing the Superplant: Increasing Lipid Signaling for Enhanced Phosphorus Uptake

   Master-uppsats, Lunds universitet/Tillämpad biokemi; Lunds universitet/Beräkningskemi

   Författare :Louise Jedemark; [2021]
   Nyckelord :Lipid flippases; Arabidopsis; Yeast; Transport biology; Applied Biochemistry; Tillämpad biokemi; Biology and Life Sciences; Technology and Engineering;

   Sammanfattning : 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. LÄS MER