QueryOR: a comprehensive web platform for genetic variant analysis and prioritization

Abstract 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 platfo...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Loris Bertoldi, Claudio Forcato, Nicola Vitulo, Giovanni Birolo, Fabio De Pascale, Erika Feltrin, Riccardo Schiavon, Franca Anglani, Susanna Negrisolo, Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin, Georgine Faulkner, Alessandro Vezzi, Giorgio Valle
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMC 2017-04-01
Sarja:BMC Bioinformatics
Aiheet:
Variant prioritization
Exome sequencing
Variant annotation
Data integration
Linkit:http://link.springer.com/article/10.1186/s12859-017-1654-4
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