Essays about: "Clinical sequencing"

Showing result 1 - 5 of 35 essays containing the words Clinical sequencing.

  1. 1. Validation of a Next Generation Sequencing based method for chimerism analysis in clinical practice

    University essay from Uppsala universitet/Institutionen för medicinsk cellbiologi

    Author : Maria Högberg; [2022]
    Keywords : Devyser chimerism; fragment analysis; hematopoietic stem cell transplantation; short tandem repeats; indels;

    Abstract : Hematopoietic stem cell transplantation (HSCT) is used to treat patient with hematological diseases such as leukemia and genetic conditions such as sickle cell anemia. After HSCT the patients are supervised for signs of relapse of disease or rejection of transplanted cells. This is done by using chimerism analysis. READ MORE

  2. 2. 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. 3. 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

  4. 4. 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

  5. 5. Evaluation of performance of MSI detection tools using targeted sequencing data

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Satya Krishna Prasanna Kolluri; [2021]
    Keywords : MSI; MSIcallers; Insilico dilutions; subsampling;

    Abstract : In recent years, digitalization and computer-based technologies have greatly revolutionized the field of bioinformatics. Advance research and development of computer-based programs have enhanced various DNA sequencing technologies. READ MORE