Automated detection and localization of genome inversions using principal component analysis

 

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
লেখক: Fallas Moya, Fabián, Nowling, Ronald J., Emrich, Scott, Sadovnik, Amir
বিন্যাস: comunicación de congreso
প্রকাশনার তারিখ:2021
বিবরন:Inversions occur when sections of a chromosome (DNA molecule) are completely reversed end-to-end. Large inversions (multiple megabases in length) can be detected, localized, and genotyped using principal component analysis (PCA) of single nucleotide polymorphisms (SNPs). However, detection and localization tasks are performed and interpreted manually. We propose a novel pipeline for the detection and localization tasks in an automated manner. We compare our results with manual analysis for localization and show that our algorithm can achieve a similarity score of 0.95 on average. For the classification task, we achieve an accuracy of 0.88 as compared to manual classification. Our results suggest that our proposed methods are fast and accurate for these tasks and can be used as tools for detection and localization.
দেশ:Kérwá
প্রতিষ্ঠান:Universidad de Costa Rica
Repositorio:Kérwá
ভাষা:Inglés
OAI Identifier:oai:kerwa.ucr.ac.cr:10669/102346
অনলাইন ব্যবহার করুন:https://hdl.handle.net/10669/102346
https://doi.org/10.1109/BIP53678.2021.9612782
মুখ্য শব্দ:chromosome inversion
principal component analysis
PCA
automated detection
automated localization
large inversion detection