Essays about: "Clinical sequencing"

Showing result 11 - 15 of 47 essays containing the words Clinical sequencing.

  1. 11. 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

  3. 12. Implementing ExomeDepth with a variant filter as a CNV-calling tool for germline clinical diagnostic testing

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Alice Krysén; [2022]
    Keywords : ;

    Abstract : 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

  4. 13. Systems biology of deregulated splicing in cancer. A pan-cancer analysis of dysfunctional splicing machinery and alternative splicing events.

    University essay from

    Author : Leticia Castillon; [2021-08-06T14:57:24Z 2021-08-06T14:57:24Z 2021 2020]
    Keywords : multi-omics; splicing; alternative splicing; deep learning; cancer; transcriptome;

    Abstract : The deregulation or disruption of the splicing process has been shown to play a role in the onset, development, and even response to treatment of some malignancies. Partly due to our incomplete understanding of the mechanism and regulation behind splicing and alternative splicing, the importance of aberrant splicing in oncogenesis is not yet understood. READ MORE

  5. 14. Sepsis-associated Escherichia coli whole-genome sequencing analysis using in-house developed pipeline and 1928 diagnostics tool

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Geivi Lember; [2021]
    Keywords : ;

    Abstract : Sepsis is a life-threatening condition that is caused by a dysregulated host response to infection. Timely detection of sepsis and antibiotic treatment is important for the patient’s recovery from sepsis. READ MORE

  6. 15. Safety and Stability of Samples Stored on Filter Paper for Molecular Arbovirus Diagnosis

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

    Author : Emelie Bringeland; [2021]
    Keywords : Arthropod-borne viruses arboviruses ; alphaviruses; flaviviruses; dengue virus DENV ; Japanese encephalitis virus JEV ; Tick-borne encephalitis virus TBEV ; Usutu virus USUV ; Zika virus ZIKV ; Flinders Technology Associates™ card FTA ; Biosafety; Vietnam;

    Abstract : Expanding urbanization, climate change, and population growth contribute to increased transmission and spread of arthropod-borne viruses (arboviruses), many of which cause severe disease in humans. Pathogenic arboviruses include dengue, Zika, tick-borne encephalitis, and sindbis viruses, which together threaten more than half the global population. READ MORE