Institute of Molecular and Cell Biology, A*STAR, Singapore 138673, Singapore.
Bioinformatics Institute, A*STAR, Singapore 138671, Singapore.
Bioinformatics. 2022 Sep 15;38(18):4395-4402. doi: 10.1093/bioinformatics/btac533.
DNA fibre assay has a potential application in genomic medicine, cancer and stem cell research at the single-molecule level. A major challenge for the clinical and research implementation of DNA fibre assays is the slow speed in which manual analysis takes place as it limits the clinical actionability. While automatic detection of DNA fibres speeds up this process considerably, current publicly available software have limited features in terms of their user interface for manual correction of results, which in turn limit their accuracy and ability to account for atypical structures that may be important in diagnosis or investigative studies. We recognize that core improvements can be made to the GUI to allow for direct interaction with automatic results to preserve accuracy as well as enhance the versatility of automatic DNA fibre detection for use in variety of situations.
To address the unmet needs of diverse DNA fibre analysis investigations, we propose DNA Stranding, an open-source software that is able to perform accurate fibre length quantification (13.22% mean relative error) and fibre pattern recognition (R > 0.93) with up to six fibre patterns supported. With the graphical interface, we developed, user can conduct semi-automatic analyses which benefits from the advantages of both automatic and manual processes to improve workflow efficiency without compromising accuracy.
The software package is available at https://github.com/lgole/DNAStranding.
Supplementary data are available at Bioinformatics online.
DNA 纤维分析在基因组医学、癌症和干细胞研究的单分子水平上具有潜在的应用。DNA 纤维分析在临床和研究中的应用的一个主要挑战是手动分析的速度较慢,因为它限制了临床的可操作性。虽然自动检测 DNA 纤维大大加快了这一过程,但当前可用的公共软件在手动校正结果的用户界面方面功能有限,这反过来又限制了它们的准确性和对可能对诊断或研究性研究很重要的非典型结构的处理能力。我们认识到,可以对 GUI 进行核心改进,以便直接与自动结果进行交互,从而在保留准确性的同时提高自动 DNA 纤维检测的多功能性,以满足各种情况的需要。
为了满足各种 DNA 纤维分析研究的未满足需求,我们提出了 DNA Stranding,这是一个开源软件,能够进行准确的纤维长度定量(平均相对误差为 13.22%)和纤维模式识别(R > 0.93),最多支持六种纤维模式。通过我们开发的图形界面,用户可以进行半自动分析,这种分析方法结合了自动和手动过程的优点,提高了工作流程的效率,同时又不影响准确性。
软件包可在 https://github.com/lgole/DNAStranding 上获得。
补充数据可在 Bioinformatics 在线获得。