Author

Miguel Bernabé‐Rubio

Guy's HospitalORCID 0000-0003-2019-6752Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam J. SardariD· 1 shared Arun Prasad PanduranganiD· 1 shared Bastian Greshake TzovarasiD· 1 shared Ben Smithers· 1 shared Chang LuiD· 1 shared Davide DanoviiD· 1 shared Hai FangiD· 1 shared Hashem A. Shihab· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adam J. SardarORCID

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1 paper

Recent·Most cited

GenomicsNature CommunicationsPeer-reviewedFeb 17, 2023

Hypothesis-free phenotype prediction within a genetics-first framework

Chang Lu, Jan Maciej Zaucha, Rihab Gam…·Julian Gough

The paper presents a genetics-first framework using molecular knowledge to predict phenotypes from rare coding variants in a direct-to-consumer genotype cohort, identifying novel genetic causes for developmental disorders.

4 citations

humanwhole-exome sequencing

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