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Biology subjects

Detering, H.

Publications and source records attributed to Detering, H..

3 recordsLinked to original sources

From literature to biodiversity data: mining arthropod organismal and ecological traits with machine learning

The fields of taxonomy and biodiversity research have witnessed an exponential growth in published literature. This vast corpus of articles holds information on the diverse biological traits of organisms and their ecologies. However, access to and extraction of relevant data from this extensive resource remain challenging. Advances in text and data mining (TDM) and Natural Language Processing (NLP) techniques offer new opportunities for liberating such information from the literature. Testing and using such approaches to annotate articles in machine actionable formats is therefore necessary to enable the exploitation of existing knowledge in new biology, ecology, and evolution research. Here we explore the potential of these methods to annotate and extract organismal and ecological trait data for the most diverse animal group on Earth, the arthropods. The article processing workflow uses manually curated trait dictionaries with trained NLP models to perform labelling of entities and relationships of thousands of articles. A subset of manually annotated documents facilitated the formal evaluation of the performance of the workflow in terms of entity recognition and normalisation, and relationship extraction, highlighting several important technical challenges. The results are made available to the scientific community through an interactive web tool and queryable resource, the ArTraDB Arthropod Trait Database. These methodological explorations provide a framework that could be extended beyond the arthropods, where TDM and NLP approaches applied to the taxonomy and biodiversity literature will greatly facilitate data synthesis studies and literature reviews, the identification of knowledge gaps and biases, as well as the data-informed investigation of ecological and evolutionary trends and patterns.

bioinformatics↗

Accuracy of somatic variant detection in multiregional tumor sequencing data

Multiregional bulk sequencing data is necessary to characterize intratumor genetic heterogeneity. Novel somatic variant calling approaches aim to address the particular characteristics of multiregional data, but it remains unclear to which extent they improve compared to single-sample strategies. Here we compared the performance of 16 single-nucleotide variant calling approaches on multiregional sequencing data under different scenarios with in-silico and real sequencing reads, including varying sequencing coverage and increasing levels of spatial clonal admixture. Under the conditions simulated, methods that use information across multiple samples do not necessarily perform better than some of the standard calling methods that work sample by sample. Nonetheless, our results indicate that under difficult conditions, Mutect2 in multisample mode, in combination with a correction step, seems to perform best. Our analysis provides data-driven guidance for users and developers of somatic variant calling tools.

bioinformatics↗

Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours

About half of all cancers have somatic integrations of retrotransposons. To characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 37 histological cancer subtypes. We identified 19,166 somatically acquired retrotransposition events, affecting 35% of samples, and spanning a range of event types. L1 insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant L1 integrations can delete megabase-scale regions of a chromosome, sometimes removing tumour suppressor genes, as well as inducing complex translocations and large-scale duplications. Somatic retrotranspositions can also initiate breakage-fusion-bridge cycles, leading to high-level amplification of oncogenes. These observations illuminate a relevant role of L1 retrotransposition in remodeling the cancer genome, with potential implications in the development of human tumours.

genomics↗