@article{PfeilSiptrothPospisiletal.2023, author = {Pfeil, Juliane and Siptroth, Julienne and Pospisil, Heike and Frohme, Marcus and Hufert, Frank T. and Moskalenko, Olga and Yateem, Murad and Nechyporenko, Alina}, title = {Classification of Microbiome Data from Type 2 Diabetes Mellitus Individuals with Deep Learning Image Recognition}, series = {Big Data and Cognitive Computing}, volume = {7}, journal = {Big Data and Cognitive Computing}, number = {1}, publisher = {MDPI}, issn = {2504-2289}, url = {http://nbn-resolving.de/urn:nbn:de:kobv:526-opus4-17184}, year = {2023}, abstract = {Microbiomic analysis of human gut samples is a beneficial tool to examine the general well-being and various health conditions. The balance of the intestinal flora is important to prevent chronic gut infections and adiposity, as well as pathological alterations connected to various diseases. The evaluation of microbiome data based on next-generation sequencing (NGS) is complex and their interpretation is often challenging and can be ambiguous. Therefore, we developed an innovative approach for the examination and classification of microbiomic data into healthy and diseased by visualizing the data as a radial heatmap in order to apply deep learning (DL) image classification. The differentiation between 674 healthy and 272 type 2 diabetes mellitus (T2D) samples was chosen as a proof of concept. The residual network with 50 layers (ResNet-50) image classification model was trained and optimized, providing discrimination with 96\% accuracy. Samples from healthy persons were detected with a specificity of 97\% and those from T2D individuals with a sensitivity of 92\%. Image classification using DL of NGS microbiome data enables precise discrimination between healthy and diabetic individuals. In the future, this tool could enable classification of different diseases and imbalances of the gut microbiome and their causative genera.}, language = {en} } @article{JanowskiGrohmeFrohmeetal.2014, author = {Janowski, Susann and Grohme, Markus and Frohme, Marcus and Wink, Michael}, title = {Development of New Microsatellite (STR) Markers for Montagu's Harrier (Circus pygargus) via 454 Shot-Gun Pyrosequencing}, series = {The Open Ornithology Journal}, volume = {7}, journal = {The Open Ornithology Journal}, issn = {1874-4532}, doi = {10.2174/1874453201407010011}, url = {http://nbn-resolving.de/urn:nbn:de:kobv:526-opus4-5966}, pages = {11 -- 18}, year = {2014}, abstract = {During the last decades the ground-breeding Montagu's harrier ( Circus pygargus , Linnaeus, 1758) has changed its breeding habitats in Europe to agricultural areas in which many local populations would be close to extinction without a special nest protection regime. Although Montagu's harrier is a well-studied species in terms of ecology and breeding biology, its genetic structure and population genetics are almost unknown. As there is a lack of good genetic markers we developed a set of 19 microsatellite markers comprising 16 new STR markers which were identified by next-generation sequencing (NGS) using 454 shot-gun pyrosequencing of genomic DNA. The STR markers were arranged into three multiplex PCR sets for high throughput genotyping and characterised. The marker set provides a powerful tool for kinship analysis. The combined non-exclusion probability for parent pairs was 1.13* 10-11. Only three loci showed PIC values < 0.50. In total, 121 known family relationships were compared with genetically calculated ones to test the markers suitability for parentage analysis. In 97.5\% of all cases full-sibships were accurately determined and 97.6\% of all mothers were assigned correctly to their chicks. The present multiplex PCR panels can be used to investigate several hypotheses concerning breeding behaviour, kinship, exchange rates between populations and phylogeography.}, language = {en} } @article{JanowskiGrossSauerGuerthetal.2016, author = {Janowski, Susann and Gross, Ina and Sauer-G{\"u}rth, Hedwig and Tietze, Dieter Thomas and Grohme, Markus and Frohme, Marcus and Becker, Peter and Wink, Michael}, title = {New Microsatellite Markers for the Common Tern (Sterna hirundo) Developed with 454 Shot-Gun Pyrosequencing}, series = {The Open Ornithology Journal}, volume = {9}, journal = {The Open Ornithology Journal}, issn = {1874-4532}, doi = {10.2174/1874453201609010050}, url = {http://nbn-resolving.de/urn:nbn:de:kobv:526-opus4-6789}, pages = {50 -- 59}, year = {2016}, abstract = {Long term studies, focusing on population- and socio-biology research, require the unequivocal identification of individuals. DNA studies with Short Tandem Repeats (STR loci) became a widespread tool in population genetics. We used the next-generation sequencing (NGS) approach with 454 shot-gun pyrosequencing to identify 13 new polymorphic STR loci for the Common Tern, Sterna hirundo. To enlarge the marker set we added two more loci originally developed for Black-legged Kittiwake (Rissa tridactyla) and Red-billed Gull (Chroicocephalus scopulinus) and arranged these 15 loci into three multiplex PCR panels for high throughput genotyping. Loci characterization demonstrated that our marker set is of high quality. A PIC value of about 0.67 and a power of exclusion value of 0.99 were reached. Deviation from Hardy-Weinberg expectations of some loci and low frequencies for null alleles are interpreted as a result of inbreeding and founder effect in the investigated tern colony. We used a test data set of this well-studied breeding colony of Common Tern at Banter Lake, Wilhelmshaven, Germany, to perform a parentage test. Parent-chick relationships, known from the social pedigree of that colony, were compared with genetically calculated ones. In order to test our markers and the used parentage program COLONY, we conducted six competing data sets with varying completeness of included parental genotypes. By including fully sampled parent pairs of known family assignment, results were correct for nest mates, single parents and parent pairs. Our marker set provides a powerful tool to investigate life-time reproductive success and other issues of population and socio-biology for Common Terns, e.g. in the aforementioned colony monitored for decades.}, language = {en} } @article{EndrullatGloeklerFrankeetal.2016, author = {Endrullat, Christoph and Gl{\"o}kler, J{\"o}rn and Franke, Philipp and Frohme, Marcus}, title = {Standardization and quality management in next-generation sequencing}, series = {Applied \& Translational Genomics}, volume = {10}, journal = {Applied \& Translational Genomics}, issn = {2212-0661}, doi = {10.1016/j.atg.2016.06.001}, url = {http://nbn-resolving.de/urn:nbn:de:kobv:526-opus4-6637}, pages = {2 -- 9}, year = {2016}, abstract = {DNA sequencing continues to evolve quickly even after > 30 years. Many new platforms suddenly appeared and former established systems have vanished in almost the same manner. Since establishment of next-generation sequencing devices, this progress gains momentum due to the continually growing demand for higher throughput, lower costs and better quality of data. In consequence of this rapid development, standardized procedures and data formats as well as comprehensive quality management considerations are still scarce. Here, we listed and summarized current standardization efforts and quality management initiatives from companies, organizations and societies in form of published studies and ongoing projects. These comprise on the one hand quality documentation issues like technical notes, accreditation checklists and guidelines for validation of sequencing workflows. On the other hand, general standard proposals and quality metrics are developed and applied to the sequencing workflow steps with the main focus on upstream processes. Finally, certain standard developments for downstream pipeline data handling, processing and storage are discussed in brief. These standardization approaches represent a first basis for continuing work in order to prospectively implement next-generation sequencing in important areas such as clinical diagnostics, where reliable results and fast processing is crucial. Additionally, these efforts will exert a decisive influence on traceability and reproducibility of sequence data.}, language = {en} }