19 research outputs found
Chapter Raccontare i reperti archeologici: un video olografico per la stele di âAuvele Feluskeââ
The 43rd UID conference, held in Genova, takes up the theme of âDialoguesâ as practice and debate on many fundamental topics in our social life, especially in these complex and not yet resolved times. The city of Genova offers the opportunity to ponder on the value of comparison and on the possibilities for the community, naturally focused on the aspects that concern us, as professors, researchers, disseminators of knowledge, or on all the possibile meanings of the discipline of representation and its dialogue with âothersâ, which we have broadly catalogued in three macro areas: History, Semiotics, Science / Technology. Therefore, âdialogueâ as a profitable exchange based on a common language, without which it is impossible to comprehend and understand one another; and the graphic sign that connotes the conference is the precise transcription of this concept: the title âtranslatedâ into signs, derived from the visual alphabet designed for the visual identity of the UID since 2017. There are many topics which refer to three macro sessions: - Witnessing (signs and history) - Communicating (signs and semiotics) - Experimenting (signs and sciences) Thanks to the different points of view, an exceptional resource of our disciplinary area, we want to try to outline the prevailing theoretical-operational synergies, the collaborative lines of an instrumental nature, the recent updates of the repertoires of images that attest and nourish the relations among representation, history, semiotics, sciences
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization
Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the study of
human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate
data analysis.
Results: Here we describe QueryOR, a web platform suitable for searching among known candidate genes as well
as for finding novel gene-disease associations. QueryOR combines several innovative features that make it comprehensive,
flexible and easy to use. Instead of being designed on specific datasets, it works on a general XML schema specifying
formats and criteria of each data source. Thanks to this flexibility, new criteria can be easily added for future
expansion. Currently, up to 70 user-selectable criteria are available, including a wide range of gene and variant features.
Moreover, rather than progressively discarding variants taking one criterion at a time, the prioritization is achieved by a
global positive selection process that considers all transcript isoforms, thus producing reliable results. QueryOR is easy
to use and its intuitive interface allows to handle different kinds of inheritance as well as features related to sharing
variants in different patients. QueryOR is suitable for investigating single patients, families or cohorts.
Conclusions: QueryOR is a comprehensive and flexible web platform eligible for an easy user-driven variant
prioritization. It is freely available for academic institutions at http://queryor.cribi.unipd.it/