Author

Valeria Tiranti

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-3584-7338Unclaimed ORCID profile · follow to get notified of new preprints

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Genetics· 1

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Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Agnès RötigiD· 1 shared Alice Donati· 1 shared Anne LombèsiD· 1 shared Arcangela IusoiD· 1 shared Benoît FunalotiD· 1 shared Birgit M. Repp· 1 shared Caterina Terrile· 1 shared Christian MertesiD· 1 shared

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2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Agnès RötigORCID

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1 paper

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedJun 12, 2017

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura Sophie Kremer, Daniel M. Bader, Christian Mertes…·Holger Prokisch

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.

590 citationstop 1%

humanbulk RNA-seq

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