Essays about: "Variant calling"

Showing result 1 - 5 of 8 essays containing the words Variant calling.

  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. Preprocessing of Nanopore Current Signals for DNA Base Calling

    University essay from KTH/Skolan för elektroteknik och datavetenskap (EECS)

    Author : Josef Malmström; [2020]
    Keywords : ;

    Abstract : DNA is a molecule containing genetic information in all living organisms and many viruses. The process of determining the underlying genetic code in the DNA of an organism is known as DNA sequencing, and is commonly used for instance to study viruses, perform forensic analysis, and for medical diagnosis. READ MORE

  3. 3. Whole-Genome Sequencing of two Swedish Individuals on PromethION

    University essay from Lunds universitet/Examensarbeten i bioinformatik

    Author : Nazeefa Fatima; [2019]
    Keywords : Biology and Life Sciences;

    Abstract : Background: Chromosomes can undergo various changes such as deletions, inversions, insertions, and/or translocations resulting in structural variation differences between individuals. Structural variants are a common source of variability in the human genome and have been known to be associated with common diseases such as autism, cancer, and rare human diseases [1, 2]. READ MORE

  4. 4. SVenX: A highly parallelized pipeline for structural variation detection using linked read whole genome sequencing data

    University essay from Lunds universitet/Examensarbeten i bioinformatik

    Author : Vanja Börjesson; [2018]
    Keywords : Biology and Life Sciences;

    Abstract : Genomic rearrangements larger than 50 bp are called structural variants. As a group, they affect the phenotypic diversity among humans and have been associated with many human disorders including neurodevelopmental disorder and cancer. READ MORE

  5. 5. Quality control of a somatic mutation analysis pipeline for next generation sequencing data

    University essay from Uppsala universitet/Institutionen för immunologi, genetik och patologi

    Author : Marina Rashyna; [2018]
    Keywords : ;

    Abstract : Many studies are focused on analysis of next generation sequencingdata from normal and cancer tissues with the intention ofidentifying somatic mutations in cancer. In brief, the producedsequences are mapped to the reference genome; later the data fromthe tumour and normal sample is compared to identify mutations inthe tumour. READ MORE