Balan Ramesh, Clay M Small, Hope Healey, Bernadette Johnson, Elyse Barker, Mark Currey, Susan Bassham, Megean Myers, William A Cresko, Adam Gregory Jones
{"title":"Improvements to the Gulf pipefish <i>Syngnathus scovelli</i> genome.","authors":"Balan Ramesh, Clay M Small, Hope Healey, Bernadette Johnson, Elyse Barker, Mark Currey, Susan Bassham, Megean Myers, William A Cresko, Adam Gregory Jones","doi":"10.46471/gigabyte.76","DOIUrl":"10.46471/gigabyte.76","url":null,"abstract":"<p><p>The Gulf pipefish <i>Syngnathus scovelli</i> has emerged as an important species for studying sexual selection, development, and physiology. Comparative evolutionary genomics research involving fishes from Syngnathidae depends on having a high-quality genome assembly and annotation. However, the first <i>S. scovelli</i> genome assembled using short-read sequences and a smaller RNA-sequence dataset has limited contiguity and a relatively poor annotation. Here, using PacBio long-read high-fidelity sequences and a proximity ligation library, we generate an improved assembly to obtain 22 chromosome-level scaffolds. Compared to the first assembly, the gaps in the improved assembly are smaller, the N75 is larger, and our genome is ~95% BUSCO complete. Using a large body of RNA-Seq reads from different tissue types and NCBI's Eukaryotic Annotation Pipeline, we discovered 28,162 genes, of which 8,061 are non-coding genes. Our new genome assembly and annotation are tagged as a RefSeq genome by NCBI and provide enhanced resources for research work involving <i>S. scovelli.</i>.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2023 ","pages":"gigabyte76"},"PeriodicalIF":0.0,"publicationDate":"2023-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Inês G. Gonçalves, D. Hormuth, Sandhya Prabhakaran, C. Phillips, J. García-Aznar
{"title":"PhysiCOOL: A generalized framework for model Calibration and Optimization Of modeLing projects","authors":"Inês G. Gonçalves, D. Hormuth, Sandhya Prabhakaran, C. Phillips, J. García-Aznar","doi":"10.1101/2022.11.17.516671","DOIUrl":"https://doi.org/10.1101/2022.11.17.516671","url":null,"abstract":"In silico models of biological systems are usually very complex and rely on several parameters describing physical and biological properties that require validation. As such, parameter space exploration is an essential component of computational model development to fully characterize and validate simulation results. Experimental data may also be used to constrain parameter space (or enable model calibration) to enhance the biological relevance of model parameters. One widely used computational platform in the mathematical biology community is PhysiCell which provides a standardized approach to agent-based models of biological phenomena at different time and spatial scales. Nonetheless, one limitation of PhysiCell is that there has not been a generalized approach for parameter space exploration and calibration that can be run without high-performance computing access. Taking this into account, we present PhysiCOOL, an open-source Python library tailored to create standardized calibration and optimization routines of PhysiCell models. Graphical abstract","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42303717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adrian Viehweger, Mike Marquet, Martin Hölzer, Nadine Dietze, Mathias W Pletz, Christian Brandt
{"title":"Nanopore-based enrichment of antimicrobial resistance genes - a case-based study.","authors":"Adrian Viehweger, Mike Marquet, Martin Hölzer, Nadine Dietze, Mathias W Pletz, Christian Brandt","doi":"10.46471/gigabyte.75","DOIUrl":"10.46471/gigabyte.75","url":null,"abstract":"<p><p>Rapid screening of hospital admissions to detect asymptomatic carriers of resistant bacteria can prevent pathogen outbreaks. However, the resulting isolates rarely have their genome sequenced due to cost constraints and long turn-around times to get and process the data, limiting their usefulness to the practitioner. Here we used real-time, on-device target enrichment (\"adaptive\") sequencing as a highly multiplexed assay covering 1,147 antimicrobial resistance genes. We compared its utility against standard and metagenomic sequencing, focusing on an isolate of <i>Raoultella ornithinolytica</i> harbouring three carbapenemases (<i>NDM</i>, <i>KPC</i>, <i>VIM</i>). Based on this experimental data, we then modelled the influence of several variables on the enrichment results and predicted the large effect of nucleotide identity (higher is better) and read length (shorter is better). Lastly, we showed how all relevant resistance genes are detected using adaptive sequencing on a miniature (\"Flongle\") flow cell, motivating its use in a clinical setting to monitor similar cases and their surroundings.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2023 ","pages":"gigabyte75"},"PeriodicalIF":0.0,"publicationDate":"2023-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9534172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B. Ramesh, CM Small, H. Healey, B. Johnson, E. Barker, M. Currey, S. Bassham, M. Myers, WA Cresko, Ag Jones
{"title":"Improvements to the Gulf pipefish Syngnathus scovelli genome","authors":"B. Ramesh, CM Small, H. Healey, B. Johnson, E. Barker, M. Currey, S. Bassham, M. Myers, WA Cresko, Ag Jones","doi":"10.1101/2023.01.23.525209","DOIUrl":"https://doi.org/10.1101/2023.01.23.525209","url":null,"abstract":"The Gulf pipefish Syngnathus scovelli has emerged as an important species in the study of sexual selection, development, and physiology, among other topics. The fish family Syngnathidae, which includes pipefishes, seahorses, and seadragons, has become an increasingly attractive target for comparative research in ecological and evolutionary genomics. These endeavors depend on having a high-quality genome assembly and annotation. However, the first version of the S. scovelli genome assembly was generated by short-read sequencing and annotated using a small set of RNA-sequence data, resulting in limited contiguity and a relatively poor annotation. Here, we present an improved genome assembly and an enhanced annotation, resulting in a new official gene set for S. scovelli. By using PacBio long-read high-fidelity (Hi-Fi) sequences and a proximity ligation (Hi-C) library, we fill small gaps and join the contigs to obtain 22 chromosome-level scaffolds. Compared to the previously published genome, the gaps in our novel genome assembly are smaller, the N75 is much larger (13.3 Mb), and this new genome is around 95% BUSCO complete. The precision of the gene models in the NCBI’s eukaryotic annotation pipeline was enhanced by using a large body of RNA-Seq reads from different tissue types, leading to the discovery of 28,162 genes, of which 8,061 were non-coding genes. This new genome assembly and the annotation are tagged as a RefSeq genome by NCBI and thus provide substantially enhanced genomic resources for future research involving S. scovelli.","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2023 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42096485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Distribution of mosquitoes (Diptera: Culicidae) in Thailand: a dataset.","authors":"Chutipong Sukkanon, Wannapa Suwonkerd, Kanutcharee Thanispong, Manop Saeung, Pairpailin Jhaiaun, Suntorn Pimnon, Kanaphot Thongkhao, Sylvie Manguin, Theeraphap Chareonviriyaphap","doi":"10.46471/gigabyte.90","DOIUrl":"https://doi.org/10.46471/gigabyte.90","url":null,"abstract":"<p><p>Mosquitoes play a crucial role as primary vectors for various infectious diseases in Thailand. Therefore, accurate distribution information is vital for effectively combating and better controlling mosquito-borne diseases. Here, we present a curated dataset of the mosquito distribution in Thailand comprising 12,278 records of at least 117 mosquito species (Diptera: Culicidae). The main genera included in the dataset are <i>Aedes</i>, <i>Anopheles</i>, <i>Armigeres</i>, <i>Culex</i>, and <i>Mansonia</i>. From 2007 to 2023, data were collected through routine mosquito surveillance and research projects from 1,725 locations across 66 (out of 77) Thai provinces. The majority of the data were extracted from a Thai database of the Thailand Malaria Elimination Program. To facilitate broader access to mosquito-related data and support further exploration of the Thai mosquito fauna, the data were translated into English. Our dataset has been published in the Global Biodiversity Information Facility, making it available for researchers worldwide.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2023 ","pages":"gigabyte90"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10498097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10270936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lodovico Terzi di Bergamo, Francesca Guidetti, Davide Rossi, Francesco Bertoni, Luciano Cascione
{"title":"HTGQC and shinyHTGQC: an R package and shinyR application for quality controls of HTG EDGE-seq protocols.","authors":"Lodovico Terzi di Bergamo, Francesca Guidetti, Davide Rossi, Francesco Bertoni, Luciano Cascione","doi":"10.46471/gigabyte.74","DOIUrl":"10.46471/gigabyte.74","url":null,"abstract":"<p><p>Extraction-free HTG EdgeSeq protocols are used to profile sets of genes and measure their expression. Thus, these protocols are frequently used to characterise tumours and their microenvironments. However, although positive and control genes are provided, little indication is given concerning the assessment of the technical success of each sample within the sequencing run. We developed HTGQC, an R package for the quality control of HTG EdgeSeq protocols. Additionally, shinyHTGQC is a shiny application for users without computing knowledge, providing an easy-to-use interface for data quality control and visualisation. Quality checks can be performed on the raw sequencing outputs, and samples are flagged as FAIL or ALERT based on the expression levels of the positive and negative control genes.</p><p><strong>Availability & implementation: </strong>The code is freely available at https://github.com/LodovicoTerzi/HTGQC (R package) and https://lodovico.shinyapps.io/shinyHTGQC/ (shiny application), including test datasets.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte74"},"PeriodicalIF":0.0,"publicationDate":"2022-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9166564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Daniel Bergman, Lauren Marazzi, Mukti Chowkwale, Deepa Maheshvare M, Supriya Bidanta, Tarunendu Mapder, Jialun Li
{"title":"PhysiPKPD: A pharmacokinetics and pharmacodynamics module for PhysiCell.","authors":"Daniel Bergman, Lauren Marazzi, Mukti Chowkwale, Deepa Maheshvare M, Supriya Bidanta, Tarunendu Mapder, Jialun Li","doi":"10.46471/gigabyte.72","DOIUrl":"10.46471/gigabyte.72","url":null,"abstract":"<p><p>Pharmacokinetics and pharmacodynamics (PKPD) are key considerations in any study of molecular therapies. It is thus imperative to factor their effects into any <i>in silico</i> model of biological tissue involving such therapies. Furthermore, creating a standardized and flexible framework will benefit the community by increasing access to such modules and enhancing their communicability. PhysiCell is an open-source physics-based cell simulator, i.e., a platform for modeling biological tissue, that is quickly being adopted and utilized by the mathematical biology community. We present here PhysiPKPD, an open-source PhysiCell-based package that allows users to include PKPD in PhysiCell models.</p><p><strong>Availability & implementation: </strong>The source code for PhysiPKPD is located here: https://github.com/drbergman/PhysiPKPD.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte72"},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9159221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Audrey J Majeske, Alejandro J Mercado Capote, Aleksey Komissarov, Anna Bogdanova, Nikolaos V Schizas, Stephanie O Castro Márquez, Kenneth Hilkert, Walter Wolfsberger, Tarás K Oleksyk
{"title":"The first complete mitochondrial genome of <i>Diadema antillarum</i> (Diadematoida, Diadematidae).","authors":"Audrey J Majeske, Alejandro J Mercado Capote, Aleksey Komissarov, Anna Bogdanova, Nikolaos V Schizas, Stephanie O Castro Márquez, Kenneth Hilkert, Walter Wolfsberger, Tarás K Oleksyk","doi":"10.46471/gigabyte.73","DOIUrl":"10.46471/gigabyte.73","url":null,"abstract":"<p><p>The mitochondrial genome of the long-spined black sea urchin, <i>Diadema antillarum</i>, was sequenced using Illumina next-generation sequencing technology. The complete mitogenome is 15,708 bp in length, containing two rRNA, 22 tRNA and 13 protein-coding genes, plus a noncoding control region of 133 bp. The nucleotide composition is 18.37% G, 23.79% C, 26.84% A and 30.99% T. The A + T bias is 57.84%. Phylogenetic analysis based on 12 complete mitochondrial genomes of sea urchins, including four species of the family Diadematidae, supported familial monophyly; however, the two <i>Diadema</i> species, <i>D. antillarum</i> and <i>D. setosum</i> were not recovered as sister taxa.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte73"},"PeriodicalIF":0.0,"publicationDate":"2022-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9336289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nataly Allasi Canales, Oscar A Pérez-Escobar, Robyn F Powell, Mats Töpel, Catherine Kidner, Mark Nesbitt, Carla Maldonado, Christopher J Barnes, Nina Rønsted, Natalia A S Przelomska, Ilia J Leitch, Alexandre Antonelli
{"title":"A highly contiguous, scaffold-level nuclear genome assembly for the fever tree (<i>Cinchona pubescens</i> Vahl) as a novel resource for Rubiaceae research.","authors":"Nataly Allasi Canales, Oscar A Pérez-Escobar, Robyn F Powell, Mats Töpel, Catherine Kidner, Mark Nesbitt, Carla Maldonado, Christopher J Barnes, Nina Rønsted, Natalia A S Przelomska, Ilia J Leitch, Alexandre Antonelli","doi":"10.46471/gigabyte.71","DOIUrl":"10.46471/gigabyte.71","url":null,"abstract":"<p><p>The Andean fever tree (<i>Cinchona</i> L.; Rubiaceae) is a source of bioactive quinine alkaloids used to treat malaria. <i>C. pubescens</i> Vahl is a valuable cash crop within its native range in northwestern South America, however, genomic resources are lacking. Here we provide the first highly contiguous and annotated nuclear and plastid genome assemblies using Oxford Nanopore PromethION-derived long-read and Illumina short-read data. Our nuclear genome assembly comprises 603 scaffolds with a total length of 904 Mbp (∼82<i>%</i> of the full genome based on a genome size of 1.1 Gbp/1C). Using a combination of <i>de novo</i> and reference-based transcriptome assemblies we annotated 72,305 coding sequences comprising 83% of the BUSCO gene set and 4.6% fragmented sequences. Using additional plastid and nuclear datasets we place <i>C. pubescens</i> in the Gentianales order. This first genomic resource for <i>C. pubescens</i> opens new research avenues, including the analysis of alkaloid biosynthesis in the fever tree.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte71"},"PeriodicalIF":0.0,"publicationDate":"2022-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9164443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ruining Dong, Daniel Cameron, Justin Bedo, Anthony T Papenfuss
{"title":"svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data.","authors":"Ruining Dong, Daniel Cameron, Justin Bedo, Anthony T Papenfuss","doi":"10.46471/gigabyte.70","DOIUrl":"10.46471/gigabyte.70","url":null,"abstract":"<p><p>Nuclear integration of mitochondrial genomes and retrocopied transcript insertion are biologically important but often-overlooked aspects of structural variant (SV) annotation. While tools for their detection exist, these typically rely on reanalysis of primary data using specialised detectors rather than leveraging calls from general purpose structural variant callers. Such reanalysis potentially leads to additional computational expense and does not take advantage of advances in general purpose structural variant calling. Here, we present svaRetro and svaNUMT; R packages that provide functions for annotating novel genomic events, such as nonreference retrocopied transcripts and nuclear integration of mitochondrial DNA. The packages were developed to work within the Bioconductor framework. We evaluate the performance of these packages to detect events using simulations and public benchmarking datasets, and annotate processed transcripts in a public structural variant database. svaRetro and svaNUMT provide modular, SV-caller agnostic tools for downstream annotation of structural variant calls.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte70"},"PeriodicalIF":0.0,"publicationDate":"2022-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9694029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10831320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}