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Full Chapter Plant Genomic and Cytogenetic Databases Methods in Molecular Biology 2703 Sonia Garcia PDF
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Methods in
Molecular Biology 2703
Sònia Garcia
Neus Nualart
Editors
Plant Genomic
and Cytogenetic
Databases
METHODS IN MOLECULAR BIOLOGY
Series Editor
John M. Walker
School of Life and Medical Sciences
University of Hertfordshire
Hatfield, Hertfordshire, UK
Edited by
This Humana imprint is published by the registered company Springer Science+Business Media, LLC, part of Springer
Nature.
The registered company address is: 1 New York Plaza, New York, NY 10004, U.S.A.
There is a myriad of online plant genomics resources, mainly due to the increasing availabil-
ity of sequencing data related to technical advances in the field of genome sequencing. The
new tools, allowing fast sequencing solutions at decreasing costs, have prompted the surge
of multiple websites offering integrated omics information. Together with sequence data,
information at the more structural level, related to chromosomes, karyotypes, or genome
size, is also relevant to our understanding of plant genome evolution. Yet, despite its utility,
such cytogenetic information seems to attract less interest or is less connected with the
overall amount of genomic data. With this in mind, this volume of Methods in Molecular
Biology series offers an updated catalogue of online plant genomics and cytogenetic
resources, which may be of interest to plant evolutionary biologists as well as to plant
breeders. The chapters describe database targets, contents, and examples of uses, aiming
to provide a practical guide to the online richness of plant genomics and cytogenetic
resources. This compilation is only about databases and does not include analytic resources,
and up to our knowledge, all reported databases are periodically updated and regularly
maintained.
The book is organized into two parts, the first one devoted to plant genomic databases
and the second to databases with a focus on cytogenetics. Part I contains eight chapters. In
Chapter 1, Daniel Arend and colleagues describe the plant phenomics and genomics
research data repository, discussing how advances in methodology and technology have
helped in the study of plant genomics and phenomics, and how this has helped with issues
like food security, biodiversity, and climate change. This data repository makes comprehen-
sive plant research data publicly available to the global research community. Chapter 2, by
Philipp E. Bayer and David Edwards, deals with pangenome graphs as a data structure to
represent genome diversity. Although pangenome graphs have been created for some
species, their visualization is challenging because of their size and complexity; here a work-
flow is presented, through the use of the tool Wheat Panache, to search and visualize wheat
pangenome graphs. The next four chapters present databases related to transposable ele-
ments (TEs), which are commonly used as evolutionary markers in genetic, genomic, and
cytogenetic approaches. In Chapter 3, Simon Gaviria-Orrego and colleagues introduce us to
the InpactorDB, a plant LTR retrotransposon reference library. This database, available
online, addresses the lack of freely available full-length and classified LTR retrotransposon
reference sequences, by collecting almost 70,000 elements that can be used to identify and
classify LTR-RTs. Chapter 4, by Asmaa H. Hassan and coauthors, presents TEMM, another
database for transposon element-based molecular markers in plants. In Chapter 5, by Doğa
Eskier and colleagues, we are introduced to PlanTEenrichment, an online database com-
prising 11 plant genomes to analyze stress-associated TEs. It provides taxonomic informa-
tion on TEs and it can inform on the enrichment values of the repeats; besides, this database
can be used by researchers with little or no experience in computational analyses to quickly
identify TEs of interest. Chapter 6, by Morad M. Mokhtar and colleagues, describes the
updated database CicerSpTEdb2.0, which now includes more accurate intact LTR-RT
elements, with annotation of internal domains belonging to species of the genus Cicer
(chickpeas), providing a valuable resource for comparative genomics of the crop Cicer
arietinum and closely related species. The following Chapter 7, by Marie C. Henniges
v
vi Preface
and Ilia J. Leitch, describes BIFloraExplorer, a taxonomic, genetic, and ecological data
resource for British and Irish vascular plants, providing a clean, curated, and taxonomically
resolved dataset that enables the study of natural ecological and evolutionary patterns and
processes within the vascular flora of Britain and Ireland. Part I is closed with Chapter 8, by
Noe Fernandez-Pozo, presenting PEATmoss, a gene expression atlas for bryophytes, with
abundant data on Physcomitrium patens and expanding to include information from Antho-
ceros agrestis and Marchantia polymorpha. PEATmoss offers visualization methods and tools
for data download and has added features including, among others, co-expression network
visualization and the ability to download replicate data.
Part II contains ten additional chapters related to cytogenetics and chromosome-related
databases. Chapter 9, by Marie C. Henniges and colleagues, deals with the plant DNA
C-values database, the most trusted and widely used resource for accessing plant genome
size data, along with information like ploidy level and chromosome number, and offering
various query and filtering options. Updated six times since its inception in 2001, the most
recent release includes data for ca. 12,300 species across various land plant and algal lineages.
In Chapter 10, another well-known database in the plant cytogenetics community is pre-
sented by Anna Rice and Itay Mayrose: the Chromosome Counts Database (CCDB).
Created in 2015, the CCDB is the central online resource for plant biologists interested in
determining and documenting chromosome numbers of extant taxa. More specific data-
bases, regarding a restricted geographical region, taxonomic group, or chromosome type or
feature, are further described. In Chapter 11, Joan Simon and colleagues present Cromo-
Cat, an online database providing karyological information on the vascular plants of the
Catalan Countries (Spain). It includes over 68,000 records belonging to more than 5000
taxa, and it has been developed for over 25 years. Chapter 12, by Kuniaki Watanabe and
John Semple, presents the Index to Plant Chromosome Numbers in Asteraceae, a resource
that has been useful for synantherologists for decades, giving information on chromosome
numbers, ploidy levels, and genome sizes for species of family Asteraceae, one of the largest
of angiosperms. The authors also take the occasion to review the processes of dysploidy,
polyploidy, and hybridization having frequently occurred throughout the family’s evolu-
tionary history. In Chapter 13, Maria Bosch and coauthors present the newly updated (and
newly online) version of the Delphineae Chromosome Database (DCDB), a resource with
karyological information on this tribe of family Ranunculaceae containing species such as
aconites or larkspurs. The DCDB provides the most accurate and complete information on
chromosome numbers, ploidy levels, and other karyological data and is intended to be useful
for research in cytotaxonomy, systematics, and evolution. Chapter 14, by Pedro Jara-Seguel
and Jonathan Urrutia-Estrada, reviews and updates the Chilean Plants Cytogenetic Data-
base, an online resource providing cytogenetic information for native and invasive plant
species in Chile. In Chapter 15, Thomas Gregor and colleagues explain to us the online data
portal “Chromosome numbers of the flora of Germany,” another resource with information
on chromosome counts, ploidy levels, and flow cytometric data (genome size), and with
over 14,000 records. Chapter 16, by Mariela A. Sader and coauthors, reviews the available
South American databases on chromosome numbers, as well as the contents of those
databases containing cytogenetic information on South American species. Chapter 17, by
Marı́a Luisa Gutiérrez and coauthors, reviews and updates B-chrom, a database on
B-chromosomes for plants, animals, and fungi, which now provides information for
ca. 3000 species. Similarly, Chapter 18, by Roi Rodrı́guez-González and collaborators,
reviews and updates the Plant Ribosomal DNA database, presenting the results of the fourth
update to the resource, contributing information on rDNA loci number, position, and
Preface vii
organization, besides other related data such as genome size or telomere type, for more than
2700 plant species.
As sequencing technologies continue to improve and more genetic, genomic, and
chromosomal information is generated, it is becoming increasingly important to have
resources like the ones described in the book you are holding. This collection of databases
can help make this wealth of information more accessible and usable for plant science
researchers.
Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . v
Contributors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xi
ix
x Contents
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 247
Contributors
xi
xii Contributors
Genomic Databases
Chapter 1
Abstract
The FAIR data principle as a commitment to support long-term research data management is widely
accepted in the scientific community. However, although many established infrastructures provide compre-
hensive and long-term stable services and platforms, a large quantity of research data is still hidden.
Currently, high-throughput plant genomics and phenomics technologies are producing research data in
abundance, the storage of which is not covered by established core databases. This concerns the data
volume, for example, time series of images or high-resolution hyperspectral data; the quality of data
formatting and annotation, e.g., with regard to structure and annotation specifications of core databases;
uncovered data domains; or organizational constraints prohibiting primary data storage outside institu-
tional boundaries. To share these potentially dark data in a FAIR way and master these challenges the
ELIXIR Germany/de.NBI service Plant Genomic and Phenomics Research Data Repository (PGP) imple-
ments an on-premise approach, which allows research data to be kept in place and wrapped in FAIR-aware
software infrastructure. In this chapter, the e!DAL infrastructure software and the PGP repository are
presented as best practice on how to easily setup FAIR-compliant and intuitive research data services.
Key words Research data management, FAIR principles, Digital object identifier, Plant genomics and
phenomics
1 Introduction
Sònia Garcia and Neus Nualart (eds.), Plant Genomic and Cytogenetic Databases, Methods in Molecular Biology, vol. 2703,
https://doi.org/10.1007/978-1-0716-3389-2_1,
© The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 2023
3
4 Daniel Arend et al.
2 Background
2.1 Current Status of Almost all scientists in public research are obligated and willing to
Data Publication share all the data they produce with the research community. This
Infrastructures has been and is the practice in almost all cases [12]. The FAIR
principles, which stand for Findability, Accessibility, Interoperabil-
ity, and Reusability, were initially drafted by the FORCE11
The Plant Phenomics & Genomics Research Data Repository 5
2.2 Infrastructure- As described in the previous section the existing classes of data
to-the-Data publication infrastructures have several drawbacks, which made a
Approach (I2D) complementary infrastructure concept necessary to share compre-
hensive research data. To address a multipurpose but domain spe-
cific configurable, the need to share high volume and number of
primary data files and the limitations caused by network bandwidth
and data privacy, the idea was to apply an on-premises approach
following the infrastructure-to-the-data (I2D) concept [26].
Common data publication pipelines using one or more of the
previously mentioned databases or platforms usually involve a time-
consuming data transfer by uploading the data via provided web
applications or file clients. Another shortcoming provided by many
services is the limited amount of free-of-charge storage. Such addi-
tional costs for additional storage are on top of already granted
hardware storage of institutions. However, suitable software infra-
structures to share the stored data in a FAIR-compliant way enable
the reuse of this investment and save funding for external data
hosting. Therefore the e!DAL software follows the I2D concept
by using a data publication layer to encapsulate the existing institu-
tional infrastructure and benefit from an in-house available storage
capacity. This layer acts as a broker to the data publication service of
the DataCite [7] and contains an infrastructure for submitting
research data, reviewing files and metadata, and delivering DOIs
[27]. Figure 1 shows schematically the basic idea and differences
between the data-publication-as-a-service approach and the data-
publication-on-premises approach of the I2D concept.
3.1 Software Design e!DAL is implemented in Java to feature platform-agnostic use and
and Implementation development in the JVM ecosystem. The wide distribution of the
Concept JVM ecosystem and the large developer community allows it to
implement comprehensive functions by using established libraries.
This reduces the implementation effort and is helpful for providing
stable and constant maintenance in the future. The object-oriented
API design and aspect-oriented implementation of common pat-
terns make e!DAL scalable. It consists of a modularization concept
to encapsulate functions of common concerns, like IO, network,
metadata, storage, search, etc., which are necessary to meet the
challenges and guarantee a sustainable infrastructure. The follow-
ing listing briefly mentions the functions of the e!DAL software.
• Version Management: For reproducibility reasons, tracking the
history of all stored data files and corresponding metadata is
possible. Furthermore, a strict deletion policy forbids removing
already stored datasets and allows only to mark a version chain
as closed.
• Metadata Management: To guarantee persistent data access and
readability, every data entity is annotated with a minimal set of
technical metadata, which is crucial for searching and filtering
data and support and automatic processing without the need for
semantic interpretation.
8 Daniel Arend et al.
3.1.1 Version For reasons of intuitiveness, the e!DAL data structure is adapted
Management from common file-system infrastructures and consists of a hierarchy
of files and folders, which is complex enough for organizing com-
prehensive datasets but understandable by every user and compati-
ble with storage backends, like file systems, object stores or even
distributed storage. For data objects to store in a particular back-
end, any additional technical metadata is managed independently
from the concrete storage backend. This enables having a broad
range of metadata and its versioning.
An embedded version-control system features the traceability
of changes. Thereby every version is associated with a bundle of a
data entity and a set of metadata. In order to comply with the data
life cycle and to audit the complete file and metadata history the e!
DAL data structure records, every single data entity, or metadata
update results in a new version. The version-control mechanism
also prevents erasing of stored or published datasets; rather, it
creates a final version and closes the version chain by tagging it
with a “deleted” flag. This keeps all previous versions available and
prevents at the same time the creation of new versions. The
provided version control is embedded in the infrastructure design
and is automated, which makes it very intuitive for the user and
guarantees a complete tracking and auditing of ingested research
data. To achieve this, the default implementation of e!DAL extends
The Plant Phenomics & Genomics Research Data Repository 9
3.1.2 Metadata Besides the specific version handling, another difference of the e!
Management DAL infrastructure, in comparison to common file systems, is
integrated metadata handling. While classical file systems track
only a limited number of metadata for every data object directly
like the file owner or the file creation data, other metadata can be
only stored in separate text files or condensed in smart “self-
explaining” files names, which is not very comfortable and error-
prone. Cloud-based file stores such as object stores such as Amazon
S3 [28] overcome these shortcomings, but in practice they are not
yet rolled out in institutional storage infrastructures. The e!DAL
infrastructure solves this issue by connecting every single file or
folder version with its own set of standardized metadata. The used
schema is inspired by the DublinCore and DataCite metadata
schemata and contains a set of technical attributes, which are one
side necessary to describe the actual dataset and guarantee its long-
term readability and, on the other side, mandatory to assign a DOI
when publishing the dataset. Table 1 shows an overview about the
metadata attributes, which are provided within the e!DAL data
structure.
Table 1
Overview of the available technical attributes of the e!DAL metadata set
Attributes Description
Title A given name to the data resource
Creators Responsible people or organizations for creating the data
Contributors People or organizations contributed to the data creation
Description A brief abstract of the data content
Subjects List of specific keywords describing the data
Publisher A responsible organization for making the data available
Language The language of the data resource
Dates Linked timepoint or period of an event in the data lifecycle
Rights Information about any rights held in and over the data
Format The MIME type of the data
Size Information about the size of the data file or data set
Checksum One or more generated checksums for the data
10 Daniel Arend et al.
3.1.3 Information In contrast to common file systems, which usually provide only very
Retrieval elementary search capabilities, e!DAL provides, besides the support
for data navigation following the hierarchically organized data
folder structure, an index-based search function bundle. It auto-
matically creates a full-text index over all metadata attributes and
selected content data during creating data entities, which is crucial
to make data findable within a large number of expected files. The
search is very powerful using the index and provides a comprehen-
sive set of different functions as well as settings like a faceted search
or fuzzy queries across the provided metadata.
In addition to the provided API function, e!DAL also provides
an embedded user interface (UI) component for using the compre-
hensive search functions and makes them easily usable during the
establishment of an e!DAL-based repository. A screenshot of the
search interface is shown in Fig. 2.
Fig. 2 Screenshot of the e!DAL embedded search features. Here is an example of a specific search within the
e!DAL-PGP repository is illustrated
The Plant Phenomics & Genomics Research Data Repository 11
3.1.4 Data Privacy Protecting research data is important for reusability and crucial for
the acceptance of the infrastructure by the community in general
and by users in particular. The user requests for protection against
misuse; therefore, e!DAL has an integrated and fine-granular access
control system with sensible methods already on a low API level.
Executing code is owned by a particular subject, which can be a
trusted digital identity resulting from an authentication process.
This could be, for example, access principal bound to, a user name,
email, or a user group. It is assigned within a single-sign-on authen-
tication process when initiating a session to the e!DAL infrastruc-
ture. This supports local authentication services such as logins of
the operating system as well as OAuth or SAML-based AAI like
federated AAI, Google, ORCID, or others. To lower the barrier, an
authentication module based on the ELIXIR AAI [29] allows many
researchers to use their existing institutional identity provider to
log in without implementing proprietary user management. This
features a trusted infrastructure and is comfortable for the user,
decreasing the effort to host an e!DAL-based infrastructure.
Besides the capability to define access rules and protect specific
methods on stored datasets, another important aspect of data secu-
rity and reusability is a transparent and reliable definition of the
permissions and licenses for data reuse. This legal and authorization
information can be stored in the metadata set and can be therefore
defined for every single version of a stored data entity if necessary.
Due to the generic character of the infrastructure and the diversity
of the research data, there is no concrete license fixed. Nevertheless,
for the provided graphical user interface (GUI) of the embedded
submission tool, which is described in the next section, the license
model of the Creative Commons (CC) was integrated, and one of
the seven provided CC licenses can be selected, because they are
suitable for a broad field of research data.
Fig. 3 Integrated data review and approval process. The flow chart on the left side explains the data
submission and review procedure. Thereby the communication between the reviewers and the infrastructure,
as well as the data producers, is handled via email with embedded action links on the right side. The decisions
of the reviewers during the approval process were evaluated using a decision matrix, which is also shown on
the right side
Fig. 4 Graphical user interface of the desktop version of the data submission tool for the e!DAL-PGP repository
14 Daniel Arend et al.
3.1.6 Integrability The overall goal during the conceptualization of e!DAL and the
development of the reference implementation provided a flexible
and generic infrastructure. In concrete, this means it should not
only be easy to use but rather also configurable and maintainable
with low effort. This is crucial to be able to integrate the infrastruc-
ture in diverse existing workflows and solutions for supporting
researchers in their daily work.
Therefore, e!DAL is implemented in Java, which is still one of
the most popular programming languages and is widely used in the
life science community. Furthermore, it allows it to be used plat-
form independent. e!DAL supports stand-alone and client-server
architectures and can be integrated into Java applications as an
embedded local archive or as a central archiving system. Thus
several applications or project-specific central repositories can be
easily operated. All needed and previously described components
are already fully embedded within the infrastructure and the refer-
ence implementation. To setup e!DAL no additional technology
like a database, an indexing engine, or a web server is needed. No
specific knowledge is required because the setup of e!DAL is more
or less self-configuring. To initiate a local or a central instance, the
user needs to provide several general connection parameters, which
is required to connect the system with different online services like
DataCite for assigning DOIs, and some organizational parameter
The Plant Phenomics & Genomics Research Data Repository 15
which are needed to use the full functionality like the reviewer’s
email addresses for the embedded approval process. The compre-
hensive set of diverse login modules, which is already integrated,
facilitates the usage of the infrastructure.
3.2 Software Quality Besides the generic character of the e!DAL infrastructure and their
and Sustainable reference implementation as e!DAL-PGP repository at IPK Gate-
Documentation rsleben, another important aspect during the development was to
guarantee high software quality and usability, resulting in diverse
challenges in reusing existing software [30]. Therefore, the quality
of research software is important and is getting increasingly
focused, which also results in several approaches and recommenda-
tions for maintainable, reusable, and high-quality research
software [31].
Following lessons learned in the past decade of active software
development in research projects, published studies [32], and
guidelines for software development [33] are used to guarantee
the quality and sustainability of the e!DAL software stack, One
focus was to set the platform independency, which was addressed
by implementing e!DAL in Java. Furthermore, we consequently
used the opportunity to use open-source libraries, which extend the
native Java API, to avoid home-brewed code. There is a huge
community that maintains comprehensive libraries. Therefore the
reference implementation of e!DAL consequently used several
established libraries and frameworks like Hibernate [34] for object
persistence, AspectJ [35] for performant code-weaving and Lucene
[36] for the search engine. This supports the use of current, best-
performing code and prevents wasting time on developing error-
prone code for core components such as security, database connec-
tion, search functionality, or user management. Furthermore,
JVM-based code is widely used in the bioinformatics community
to develop graphical user interfaces, algorithms, data management
infrastructures, and web apps.
Furthermore, parallel to the development of the API and the
core code, a comprehensive test suite based on JUnit was created,
guaranteeing a permanent quality and performance evaluation dur-
ing the development. Obviously, the comprehensive functionality
results in a large amount of code and embedded libraries, which
requires to application build and dependency management tools to
maintain the infrastructure in the long term and the regular release
of stable versions. To meet these challenges, the development and
release process is mastered using Gradle Build Management. It
allows fast and specific build cycles by supporting multi-core sys-
tems, which makes it possible to run a large set of unit tests in
parallel. The different components of the e!DAL infrastructure is
thereby organized in a multi-build project, which contains the main
API components, including the reference implementation and the
components for the server-client architecture, which is directly
16 Daniel Arend et al.
Fig. 5 Overview of the data access statistics and development of the data stock provided by the e!DAL-PGP
repository. The left diagram shows the increasing number of stored datasets separated by number of files and
overall volume. The right diagram shows the overall volume of downloaded data and the number of different
user accesses to the published datasets
5 Summary
— Sandi kuolee!
— Tap-tap-tap-tap.
Hänen äänensä oli hiljainen ja heikko, mutta tyttö tiesi, että olipa
seuraus mikä tahansa, hänen piti kertoa.
Sanders makasi hiljaa silmät ummessa hänen puhuessaan ja
hänen lopetettuaan makasi vaiti — niin hiljaa, että tyttö luuli hänen
pyörtyneen.
*****
— Elämäni valo ja sieluni ilo, sanoi hän vaimolle, joka oli hänen
olkikattoisen haareminsa kaunistus. — Jos Sandi kuolee, niin uskolla
ei ole mitään merkitystä, sillä olen rukoillut kaikkia jumalia,
profeettoja ja herroja Markusta, Luukasta ja Johannasta — ja Pyhää
äitiä, josta Maristveljet minulle kertoivat; olen rukoillut ristejä ja ju-jua
ja uhrannut vuohen ja kanan Ochorin jumalan edessä.
Hänen asemansa oli vaikea, hän tiesi sen. Juuri edellisenä yönä
hän oli siepannut Tolonin salaisen lähetin, joka oli tullut Ochoriin
kehoittamaan heitä hyökkäämään Sandin miesten kimppuun
pohjoisesta päin ja ajamaan heitä kapinoivan kuninkaan odottavia
legioonia kohti. Bosambo otti mieheltä selville koko viestin, ennen
kuin lopetti hänet.
Tyttö ei vastannut.
— Kun orja istuu kuninkaan paikalla, niin vain orjat häntä kuulevat,
siteerasi hän Joen sananpartta.
*****
Sandi nyökkäsi.
Niihin aikoihin Suuri kuningas oli hyvin suuri ja hyvin vanha; niin
suuri, että mikään brittiläinen kuvernööri ei uskaltanut muuta kuin
pyytää häntä olemaan harjoittamatta julmuuksia.
Tämä Mkamdina oli älykäs nuorukainen, hyvin taitava ja sieti hyvin
pitkälle haukkumisia. Hänellä oli hovimiehen kaikki ominaisuudet. Ei
ole sen vuoksi ihmeteltävää, että hän saavutti aseman kuninkaan
perheessä, istui hänen oikealla puolellaan aterialla ja meni naimisiin
kuninkaan mielitietyn kanssa, jonka tämä hylkäsi.