Essays about: "Variant calling"

Showing result 1 - 5 of 10 essays containing the words Variant calling.

1. 1. Detecting structural variants in the DNA of the inbred Scandinavian wolf

   University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

   Author : Lars Huson; [2023]
   Keywords : 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;

   Abstract : 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. READ MORE

3. 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

4. 3. 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

5. 4. 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

6. 5. 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