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

about

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Disease Ontology: improving and unifying disease annotations across species.VarAFT: a variant annotation and filtration system for human next generation sequencing data.

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

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2017 nî lūn-bûn

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

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

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

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Claudio Forcato

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Erika Feltrin

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Fabio De Pascale

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Franca Anglani

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Francesca D'Avanzo

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Georgine Faulkner

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Bioconductor: open software development for computational biology and bioinformatics

Mapping and quantifying mammalian transcriptomes by RNA-Seq

Gene ontology: tool for the unification of biology

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

Improved exome prioritization of disease genes through cross-species phenotype comparison

The Reactome pathway knowledgebase

Exome sequencing identifies the cause of a mendelian disorder

dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

InterPro: the integrative protein signature database

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

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

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