autism spectrum disorder

ASDs are frequently associated with comorbid intellectual disability (ID), ranging between 30 and 60% of cases depending on the sampling methods and measurements used

ASDs are frequently associated with comorbid intellectual disability (ID), ranging between 30 and 60% of cases depending on the sampling methods and measurements used

Moreover, SCN2A appears to be one of the major genes in which mutations are detected in nonsyndromic intellectual disability (ID) or autism spectrum disorders (ASDs) by whole-exome sequencing6

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An annotation is considered to be a set of connected resources, typically including a body and target, and conveys that the body is related to the target.

The use of on-line, digital data has caused a revolution in the way scientific research is conducted. Inevery area of science, much investigation now depends not on new experiments, but on databases in whichexperimental evidence has been stored.

Most people will agree with the dictionary definition ofannotationas the process of adding comments ormaking notes on or upon something. Such notes have traditionally served a variety of purposes, includingexplaining, interpreting or describing some underlying text.

Figure 2: Link between terms (mentions) of a document and theontology entities

The annotation process could be a source of differenttypes of problems, for example, (i) ambiguous annotations,when entities have been assigned to more than one concept inthe ontology, (ii) erroneous annotations, when the meaningof a text is not found in the ontology, and, (iii) falseannotations, when the annotation does not provide any valuefor the realization of a semantic search.

The semantic annotation has been applied in differentareas of knowledge. For example, it has been applied inbiological systems for the identification of biomedical entitiessuch as genes, proteins, and their relationships; also, it hasbeen applied in news analysis for identification of people,organizations, and places.

The annotation playsan important role in a variety of semantic applications, suchas generation of linked data, extraction of open information,alignment of ontologies, and semantic search. Specifically,semantic search allows users to express their informationneeds in terms of the knowledge base concepts. Unliketraditional keyword-based search, semantic search can makeuse of semantic relationships in the ontology to accomplishnew tasks, such as refining user queries with broader or morespecific concepts

The semantic annotation of a document consists infinding mappings between text chunks of a document andthe instances or individuals in ontology.

Ontologies are a key component of semantic association,which is the process to formalizing knowledge through thelinking of words or phrases of plain text (mentions or namedentities) with elements of the ontology (concepts or entitie

The rapid growth of the web has generated an enormousamount of information in the form of unstructured doc-uments. Search engines have become common and basictools for users. However, engines still have difficulties inperforming searches because search methods are based onkeywords, and they do not capture and do not explore themeaning and context of the need of the user. This challengehas drawn attention of several research groups which areinterested in solving the issues associated with informationstorage and search and retrieval of information in thisenormous cumulus of data

A typical process of semantic enrichment includes:

For instance, to semantically annotate chosen concepts in the sentence “Aristotle, the author of Politics, established the Lyceum” means to identify Aristotle as a person and Politics as a written work of political philosophy, and to further index, classify and interlink the identified concepts in a semantic graph database, also known as a, triplestore. In this case, Aristotle can be linked to his date of birth, his teachers, his works, etc. Politics can be linked to its subject, its date of creation, etc. Given the semantic metadata about the above sentence and its links to other (external or internal) formal knowledge, algorithms will be able to automatically:

When a document (or another piece of content, e.g., video) is semantically tagged, it becomes a source of information that is easy to interpret, combine and reuse by our computers.

Semantic annotation (also known as semantic tagging or semantic enrichment) is the process of attaching additional information to various concepts (e.g., people, things, places, organizations, etc.) in a given text or any other content. Unlike classic text annotations, which are for the reader’s reference, semantic annotations are used by machines.

The aim of the Semantic Web is to make the information on the Web understandable and useful to computer applications and in addition to humans. “The Semantic Web is an extension of the current web in which information is given well-defined meaning, better enabling computers and people to work in cooperation"(Berners-Lee, Hendler et al. 2001). The Semantic Web is a vision for the future of the Web, in which information is given explicit meaning, making it easier for machines to automatically process and integrate the information available on the Web.

This limitation arises because most documents on the Web are written in HTML (HTML 2007), a language that is useful for visual presentation but which is semantically limited. As a result, humans can read and understand HTML Web

The aim of this chapter is to present the Web Ontology Language (OWL) which can be used to develop Semantic Web applications that understand information and data on the Web.

comprehensive bioinformatic resource for analysis of human diseases and phenotypes and serves as a computational bridge between genome biology and clinical medicine” (Köhler et al., 2017)

An ontology is a data model that represents concepts, attributes, and relationships in the form of a directed acyclic graph

Each term in the HPO describes a phenotypic abnormality, such as Atrial septum defect. Terms are related to parent terms by “is a” relationships. The structure of the HPO, which allows a term to have multiple parent terms, enables different aspects of phenotypic abnormalities to be explored (see Figure 1 for an example). The HPO itself does not describe individual disease entities but, rather, the phenotypic abnormalities associated with them. The majority of the HPO terms describe organ abnormalities, but separate ontologies are provided for describing the mode of inheritance and the onset and clinical course. We have used the HPO terms to annotate all entries of OMIM with a clinical-synopsis section. Clinical entities are annotated to the most specific terms possible. The true-path rule17 applies to the terms of the HPO. That is, if a disease is annotated to the term Atrial septal defect, then all of the ancestors of this term, such as Abnormality of the cardiac septa, also apply. The structure of the HPO, therefore, allows flexible searches for disease entities according to phenotypic abnormalities, with a broad or narrow focus.

Consider, for example, the application of ontologies in the field of health care. Medical professionals use them to represent knowledge about symptoms, diseases, and treatments. Pharmaceutical companies use them to represent information about drugs, dosages, and allergies. Combining this knowledge from the medical and pharmaceutical communities with patient data enables a whole range of intelligent applications such as decision support tools that search for possible treatments; systems that monitor drug efficacy and possible side effects; and tools that support epidemiological research.

A general example may help. A bookseller may want to integrate data coming from different publishers. The data can be imported into a common RDF model, eg, by using converters to the publishers’ databases. However, one database may use the term “author”, whereas the other may use the term “creator”. To make the integration complete, and extra definition should be added to the RDF data, describing the fact that the relationship described as “author” is the same as “creator”. This extra piece of information is, in fact, a vocabulary (or an ontology), albeit an extremely simple one

On the Semantic Web, vocabularies define the concepts and relationships (also referred to as “terms”) used to describe and represent an area of concern. Vocabularies are used to classify the terms that can be used in a particular application, characterize possible relationships, and define possible constraints on using those terms. In practice, vocabularies can be very complex (with several thousands of terms) or very simple (describing one or two concepts only).

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The term was coined by Tim Berners-Lee for a web of data (or data web)[3] that can be processed by machines[4]—that is, one in which much of the meaning is machine-readable.

The Semantic Web is an extension of the World Wide Web through standards by the World Wide Web Consortium (W3C).[1] The standards promote common data formats and exchange protocols on the Web, most fundamentally the Resource Description Framework (RDF). According to the W3C, "The Semantic Web provides a common framework that allows data to be shared and reused across application, enterprise, and community boundaries".[2] The Semantic Web is therefore regarded as an integrator across different content, information applications and systems.

The Semantic Web is an extension of the current web in which information is given well-defined meaning, better enabling computers and people to work in cooperation.

to provide sufficient flexibility to be able to represent all databases, and logic rules to link them together to great added value. The first steps in this direction were taken by the World-Wide Web Consortium (W3C) in defining Resource Description Framework (RDF)

The Semantic Web concept is to do for data what HTML did for textual information systems

At the outset of the Web, the field of hypertext was one which had shown much initial promise but little wide scale deployment. Its conversion to a global scalable system was to change that. In the meantime, much work in knowledge representation (KR) -- in ontology, interchange languages, and agent infrastructure -- has demonstrated the viability of KR as a basis for agent interaction while simultaneously highlighting the importance of support for heterogeneity and decentralization. At present, the field of knowledge representation has shown much initial promise but little truly widespread deploymen

When the World Wide Web was proposed a decade ago it was envisioned not only as a medium for human communication but also one of machine communication. The second half of that hope is as yet unrealized, with the frustrating result that vast amounts of data available to the human enquirer cannot practically be analysed and combined by machine.

Annotation Types There are a few types of annotations that can be created with the application

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types of annotations that can be created

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Create a note by selecting some text and clicking the button

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Create an account using the sidebar on the right of the screen.

You can reply to any annotation by using the reply action on every card. Privacy

There are a few types of annotations that can be created with the application: Notes Create a note by selecting some text and clicking the button

Now you have the extension up and running. It's time to start annotating some documents. Create an account using the sidebar on the right of the screen.

Annotation Types There are a few types of annotations that can be created with the application: Notes Create a note by selecting some text and clicking the button Highlights Highlights can be created by clicking the button. Try it on this sentence. Replies You can reply to any annotation by using the reply action on every card.

These annotations are visible to everyone both in the document itself and our public stream. Private Private annotations are visible only to you when logged in. Show/Hide Highlights Use the button to toggle highlight visibility on a page.

Notes Create a note by selecting some text and clicking the button Highlights Highlights can be created by clicking the button. Try it on this sentence. Replies You can reply to any annotation by using the reply action on every card.

Now you have the extension up and running. It's time to start annotating some documents. Create an account using the sidebar on the right of the screen. Go forth and annotate! Enable the sidebar via the button in the location bar.

There are a few types of annotations that can be created with the application: Notes Create a note by selecting some text and clicking the button Highlights Highlights can be created by clicking the button. Try it on this sentence. Replies

View the product roadmap to check out what we're working on. Request features, report bugs and meet other users in our discussion forums. If you need help please don't hesitate to get in touch. Visit our website to learn more about the project.

Annotation Types There are a few types of annotations that can be created with the application: Notes Create a note by selecting some text and clicking the button

Now you have the extension up and running. It's time to start annotating some documents. Create an account using the sidebar on the right of the screen. Go forth and annotate! Enable the sidebar via the button in the location bar. Annotation Types There are a few types of annotations that can be created with the application: Notes

uccessful PeopleInstead of looking for traits to emulate, focus on ones to avoid

Notes Create a note by selecting some text and clicking the button Highlights Highlights can be created by clicking the button. Try it on this se

Create an account using the sidebar on the right of the screen. Go forth and annotate! Enable the sidebar via the button in the location bar.

ou have the extension up and running. It's time to start annotating some documents. Create an account using the sidebar on the right of the screen. Go forth and annotate! Enable the sidebar via the button in the location bar.

Highlights Highlights can be created by clicking the button. Try it on this sentence. Replies You can reply to any annotation by using the reply action on every card.

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Go forth and annotate! Enable the sidebar via the button in the location bar.

There are a few types of annotations that can be created with the application:

Go forth and annotate! Enable the sidebar via the button in the location bar.

Go forth and annotate! Enable the sidebar via the button in the location bar.

Now you have the extension up and running. It's time to start annotating some documents. Create an account using the sidebar on the right of the screen. Go forth and annotate! Enable the sidebar via the button in the location bar. Annotation Types There are a few types of annotations that can be created with the application: Notes Create a note by selecting some text and clicking the button Highlights Highlights can be created by clicking the button. Try it on this sentence. Replies You can reply to any annotation by using the reply action on every card.

Create an account using the sidebar on the right of the screen. Go forth and annotate! Enable the sidebar via the button in the location bar

Go forth and annotate! Enable the sidebar via the button in the location bar.

t can be created with the application: Notes Create a note by selecting some text and clicking the button Highlights Highlights can be created by clicking the button. Try it on this sentence. Replies You can reply to any annotation by using the reply action on every card.

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your career in tech. It is a different kind of graduate programme focused on leadership, designed to create the next-g

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USINESS INTERRUPTION) HOWEVER CAUSED AND ON ANY THEORY OF LIABILITY, WHETHER IN CONTRACT, STRICT LIABILITY, OR TORT (INCLUDING NEGLIGENCE OR OTHERWISE) ARISING IN ANY WAY OUT OF THE USE OF THIS SOFTWARE, EVEN IF ADVISED OF THE POSSIBILITY OF SUC

Most ontologies are structured as directed acyclic graphs (DAG), which are similar to hierarchies but differ in that a more specialized term (child) can be related to more than one less specialized term (parent).

DevOps is a term for a group of concepts that