Essays about: "Somatic mutation"

Showing result 1 - 5 of 9 essays containing the words Somatic mutation.

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

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

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

    Abstract : 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

  2. 2. Characterization of a novel EPHB2 R155C mutant with respect to its proteolytic cleavage by TF/FVIIa

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Ece Akcan; [2021]
    Keywords : cancer; colorectal cancer; CRC; ephrin receptor; EPHB2; tissue factor; TF; TF FVIIa; cleavage; cell repulsion;

    Abstract : EPHB2, an ephrin receptor (EPH) from receptor tyrosine kinase (RTK) family, is one of the substrates for tissue factor (TF) - coagulation factor VIIa (FVIIa) complex and it is cleaved in its ectodomain. EPHB2 cleavage is important for ephrin receptor (EPH) - ephrin ligand (EFN) signaling and cell repulsion. READ MORE

  3. 3. Relation between αs1-casein, proteolytic activity and composition of milk from Swedish goats

    University essay from SLU/Department of Molecular Sciences

    Author : Emma Larsson; [2021]
    Keywords : swedish goat milk; αs1-casein; total proteolysis; plasmin; plasminogen; spectrophotometry;

    Abstract : In the recent decade, locally produced food has gained in interest among Swedish consumers. Consumer values for buying local food has to do with concerns about diversity, purity and authenticity of food as well as a desire to support rural areas. One type of product that has gained in interest is locally produced goat cheese. READ MORE

  4. 4. Non-coding constraint mutations impact the gene regulatory system in osteosarcoma

    University essay from Uppsala universitet/Institutionen för medicinsk biokemi och mikrobiologi; Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Raphaela Pensch; [2021]
    Keywords : cancer; osteosarcoma; cancer genomics; evolutionary constraint; non-coding mutations; gene regulation;

    Abstract : The non-coding space makes up around 98 % of the genome, but cancer-driving mutations have so far mostly been discovered in protein-coding regions. The majority of somatic non-coding mutations are neutral passenger mutations and identifying non-coding mutations with driving roles in cancer poses a challenge. READ MORE

  5. 5. Cost-Effectiveness of Surveillance Programs of Carriers of Pathogenic Mutations in the TP53-Gene in Sweden

    University essay from Linköpings universitet/Nationalekonomi

    Author : Oskar Frisell; [2020]
    Keywords : TP53 Surveillance Cost-effectiveness Genetics;

    Abstract : Introduction: Pathogenic mutations in the TP53-gene is present in about 50% of all somatic cancers. The TP53 gene’s function is to stop cancer cells from dividing, thus protect us from cancer. When this gene is not functioning properly, carriers face 70-100% risk of developing cancer in their lifetime. READ MORE