OptiDiff: structural variation detection from single optical mapping reads
| العنوان: | OptiDiff: structural variation detection from single optical mapping reads |
|---|---|
| المؤلفون: | Mehmet Akdel, Dick de Ridder |
| بيانات النشر: | Cold Spring Harbor Laboratory, 2022. |
| سنة النشر: | 2022 |
| الوصف: | Detecting structural variation (SV) in eukaryotic genomes is of broad interest due to its often dramatic phenotypic effects, but remains a major, costly challenge based on DNA sequencing data. A cost-effective alternative in detecting large-scale SV has become available with advances in optical mapping technology. However, the algorithmic approaches to identifying SVs from optical mapping data are limited. Here, we propose a novel, open-source SV detection tool, OptiDiff, which employs a single molecule based approach to detect and classify homozygous and heterozygous SVs at coverages as low as 20x, showing better performance than the state of the art. |
| DOI: | 10.1101/2022.01.08.475501 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::7bb70a7ca1037f2ad8717202c4b99b99 https://doi.org/10.1101/2022.01.08.475501 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi...........7bb70a7ca1037f2ad8717202c4b99b99 |
| قاعدة البيانات: | OpenAIRE |
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