Sökning: "structural variant detection"
Hittade 3 uppsatser innehållade orden structural variant detection.
1. Identifying structural variants from plant short-read sequencing data
Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildningSammanfattning : .... LÄS MER
2. Whole-Genome Sequencing of two Swedish Individuals on PromethION
Master-uppsats, Lunds universitet/Examensarbeten i bioinformatikSammanfattning : 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]. LÄS MER
3. SVenX: A highly parallelized pipeline for structural variation detection using linked read whole genome sequencing data
Master-uppsats, Lunds universitet/Examensarbeten i bioinformatikSammanfattning : 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. LÄS MER