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Biology subjects

Schliep, A.

Publications and source records attributed to Schliep, A..

2 recordsLinked to original sources

Empirical study on software and process quality in bioinformatics tools

Software quality in computational tools impacts research output in a variety of scientific disciplines. Biology is one of these fields, especially for High Throughput Sequencing (HTS) data, such tools play an important role. This study therefore characterises the overall quality of a selection of tools which are frequently part of HTS pipelines, as well as analyses the maintainability and process quality of a selection of HTS alignment tools. Our findings highlight the most pressing issues, and point to software engineering best practices developed for the improvement of maintenance and process quality. To help future research, we share the tooling for the static code analysis with SonarCloud which we used to collect data on the maintainability of different alignment tools. The results of the analysis show that the maintainability level is generally high but trends towards increasing technical debt over time. We also observed that the development activities on alignment tools are generally driven by very few developers and are not utilising modern tooling to their advantage. Based on these observations, we recommend actions to improve both maintainability and process quality in open source alignment tools. Those actions include improvements in tooling like the use of linters as well as better documentation of architecture and features. We encourage developers to use these tools in order to ease future maintenance efforts, increase user experience, support reproducibility, and ultimately increase the quality of research through increasing the quality of research software tools.

bioinformatics↗

Independent effects of socioeconomic status and genetics on adolescent cognition and brain development.

Genetic factors and socioeconomic (SES) inequalities play a large role in educational attainment, and both have been associated with variations in brain structure and cognition. However, genetics and SES are correlated, and no prior study has assessed their neural associations independently. Here we used polygenic score for educational attainment (EduYears-PGS) as well as SES, in a longitudinal study of 551 adolescents, to tease apart genetic and environmental associations with brain development and cognition. Subjects received a structural MRI scan at ages 14 and 19. At both time-points, they performed three working memory (WM) tasks. SES and EduYears-PGS were correlated (r = 0.27) and had both common and independent associations with brain structure and cognition. Specifically, lower SES was related to less total cortical surface area and lower WM. EduYears-PGS was also related to total cortical surface area, but in addition had a regional association with surface area in the right parietal lobe, a region related to non-verbal cognitive functions, including mathematics, spatial cognition, and WM. SES, but not EduYears-PGS, was related to a change in total cortical surface area from age 14 to 19. This is the first study demonstrating a regional association of EduYears-PGS and the independent prediction of SES on cognitive function and brain development. It suggests that the SES inequalities, in particular parental education, are related to global aspects of cortical development, and exert a persistent influence on brain development during adolescence. Significance statementThe influence of socioeconomic (SES) inequalities on brain and cognitive development is a hotly debated topic. However, previous studies have not considered that genetic factors overlap with SES. Here we showed, for the first time, that SES and EduYears-PGS (a score from thousands of genetic markers for educational attainment) have independent associations with both cognition and global cortical surface area in adolescents. EduYears-PGS also had a localized association in the brain: the intraparietal sulcus, a region related to non-verbal intelligence. In contrast, SES had global, but not regional, associations, and these persisted throughout adolescence. This suggests that the influence of SES inequalities is widespread - a result that opposes the current paradigm and can help inform policies in education.

neuroscience↗