Essays about: "structural variant detection"

Found 3 essays containing the words structural variant detection.

1. 1. Identifying structural variants from plant short-read sequencing data

   University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

   Author : Greta Buinovskaja; [2022]
   Keywords : bioinformatics; structural variant; association study; bean; structural variant detection; pipeline; NGS; population genetics;

   Abstract : .... READ MORE

3. 2. 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. 3. 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