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}
Awais Khan, Sarah B Carey, Alicia Serrano, Huiting Zhang, Heidi Hargarten, Haley Hale, Alex Harkess, Loren Honaas
{"title":"A phased, chromosome-scale genome of 'Honeycrisp' apple (<i>Malus domestica</i>).","authors":"Awais Khan, Sarah B Carey, Alicia Serrano, Huiting Zhang, Heidi Hargarten, Haley Hale, Alex Harkess, Loren Honaas","doi":"10.46471/gigabyte.69","DOIUrl":"10.46471/gigabyte.69","url":null,"abstract":"<p><p>The apple cultivar 'Honeycrisp' has superior fruit quality traits, cold hardiness, and disease resistance, making it a popular breeding parent. However, it suffers from several physiological disorders, production, and postharvest issues. Despite several available apple genome sequences, understanding of the genetic mechanisms underlying cultivar-specific traits remains lacking. Here, we present a highly contiguous, fully phased, chromosome-level genome of 'Honeycrisp' apples, using PacBio HiFi, Omni-C, and Illumina sequencing platforms, with two assembled haplomes of 674 Mbp and 660 Mbp, and contig N50 values of 32.8 Mbp and 31.6 Mbp, respectively. Overall, 47,563 and 48,655 protein-coding genes were annotated from each haplome, capturing 96.8-97.4% complete BUSCOs in the eudicot database. Gene family analysis reveals most 'Honeycrisp' genes are assigned into orthogroups shared with other genomes, with 121 'Honeycrisp'-specific orthogroups. This resource is valuable for understanding the genetic basis of important traits in apples and related Rosaceae species to enhance breeding efforts.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte69"},"PeriodicalIF":0.0,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9336295","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 R. Bergman, Lauren Marazzi, Mukti Chowkwale, Deepa Maheshvare M, Supriya Bidanta, T. Mapder, Jialun Li
{"title":"PhysiPKPD: A pharmacokinetics and pharmacodynamics module for PhysiCell","authors":"Daniel R. Bergman, Lauren Marazzi, Mukti Chowkwale, Deepa Maheshvare M, Supriya Bidanta, T. Mapder, Jialun Li","doi":"10.1101/2022.09.12.507681","DOIUrl":"https://doi.org/10.1101/2022.09.12.507681","url":null,"abstract":"Pharmacokinetics and pharmacodynamics are key considerations in any study of molecular therapies. It is thus imperative to factor their effects in to any in silico model of biological tissue involving such therapies. Furthermore, creation of 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. Availability & Implementation The source code for PhysiPKPD is located here: https://github.com/drbergman/PhysiPKPD.","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46267613","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}
Dylan L Schultz, Evelyne Selberherr, Corinne M Stouthamer, Matthew R Doremus, Suzanne E Kelly, Martha S Hunter, Stephan Schmitz-Esser
{"title":"Sex-based <i>de novo</i> transcriptome assemblies of the parasitoid wasp <i>Encarsia suzannae</i>, a host of the manipulative heritable symbiont <i>Cardinium hertigii</i>.","authors":"Dylan L Schultz, Evelyne Selberherr, Corinne M Stouthamer, Matthew R Doremus, Suzanne E Kelly, Martha S Hunter, Stephan Schmitz-Esser","doi":"10.46471/gigabyte.68","DOIUrl":"10.46471/gigabyte.68","url":null,"abstract":"<p><p>Parasitoid wasps in the genus <i>Encarsia</i> are commonly used as biological pest control agents of whiteflies and armored scale insects in greenhouses or the field. They are also hosts of the bacterial endosymbiont <i>Cardinium hertigii</i>, which can cause reproductive manipulation phenotypes, including parthenogenesis, feminization, and cytoplasmic incompatibility (the last is mainly studied in <i>Encarsia suzannae</i>). Despite their biological and economic importance, there are no published <i>Encarsia</i> genomes and only one public transcriptome. Here, we applied a mapping-and-removal approach to eliminate known contaminants from previously-obtained Illumina sequencing data. We generated <i>de novo</i> transcriptome assemblies for both female and male <i>E. suzannae</i> which contain 45,986 and 54,762 final coding sequences, respectively. Benchmarking Single-Copy Orthologs results indicate both assemblies are highly complete. Preliminary analyses revealed the presence of homologs of sex-determination genes characterized in other insects and putative venom proteins. Our male and female transcriptomes will be valuable tools to better understand the biology of <i>Encarsia</i> and their evolutionary relatives, particularly in studies involving insects of only one sex.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte68"},"PeriodicalIF":0.0,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10772806","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}
Brandon D Pickett, Jessica R Glass, Timothy P Johnson, Perry G Ridge, John S K Kauwe
{"title":"The genome of a giant (trevally): <i>Caranx ignobilis</i>.","authors":"Brandon D Pickett, Jessica R Glass, Timothy P Johnson, Perry G Ridge, John S K Kauwe","doi":"10.46471/gigabyte.67","DOIUrl":"10.46471/gigabyte.67","url":null,"abstract":"<p><p><i>Caranx ignobilis</i>, commonly known as giant kingfish or giant trevally, is a large, reef-associated apex predator. It is a prized sportfish, targeted throughout its tropical and subtropical range in the Indian and Pacific Oceans. It also gained significant interest in aquaculture due to its unusual freshwater tolerance. Here, we present a draft assembly of the estimated 625.92 Mbp nuclear genome of a <i>C. ignobilis</i> individual from Hawaiian waters, which host a genetically distinct population. Our 97.4% BUSCO-complete assembly has a contig NG50 of 7.3 Mbp and a scaffold NG50 of 46.3 Mbp. Twenty-five of the 203 scaffolds contain 90% of the genome. We also present noisy, long-read DNA, Hi-C, and RNA-seq datasets, the latter containing eight distinct tissues and can help with annotations and studies of freshwater tolerance. Our genome assembly and its supporting data are valuable tools for ecological and comparative genomics studies of kingfishes and other carangoid fishes.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte67"},"PeriodicalIF":0.0,"publicationDate":"2022-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9694125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10831316","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}
{"title":"First <i>De novo</i> whole genome sequencing and assembly of mutant <i>Dendrobium</i> hybrid cultivar 'Emma White'.","authors":"Rubina Sherpa, Ramgopal Devadas, Penna Suprasanna, Sadashiv Narayan Bolbhat, Tukaram Dayaram Nikam","doi":"10.46471/gigabyte.66","DOIUrl":"10.46471/gigabyte.66","url":null,"abstract":"<p><p>The <i>Dendrobium</i> hybrid cultivar 'Emma White' is an ornamental, successfully commercialised orchid. We used a gamma ray-induced early flowering mutant and the Illumina HiSeqX10 sequencing platform to generate the first draft <i>de novo</i> whole genome sequence and assembly. The draft sequence was 678,650,699 bp in length, comprising 447,500 contigs with an N50 of 1423 and 33.48% GC content. Comparing 95,529 predicted genes against the Uniprot database revealed 60,741 potential genes governing molecular functions, biological processes and cellular components. We identified 216,232 simple sequence repeats and 138,856 microsatellite markers. Chromosome-level genome assembly of <i>Dendrobium huoshanense</i> was used to RagTag-scaffold available contigs of the mutant, revealing a total length of 687,254,899 bp with an N50 of 2096. The longest final contiguous length was 18,000,059 bp from 30,571 bp. BUSCO genome completeness was 93.6%. This study is valuable for investigating the mechanisms of mutation, and developing <i>Dendrobium</i> hybrid cultivars using mutation breeding.</p>","PeriodicalId":73157,"journal":{"name":"GigaByte (Hong Kong, China)","volume":"2022 ","pages":"gigabyte66"},"PeriodicalIF":0.0,"publicationDate":"2022-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9694038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9336293","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}