Author

George de V. Carvalho Neto

University of California, Los AngelesORCID 0000-0003-4434-692XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 1 shared Alexander D. VeitiD· 1 shared Ali Al-Beshri· 1 shared Allen E. Bale· 1 shared Andrew B. CrouseiD· 1 shared Ashley AndrewsiD· 1 shared Ashok BalasubramanyamiD· 1 shared Beatriz AnguianoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alan H. BeggsORCID

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1 paper

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedAug 6, 2025

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers…·Esteban C. Dell’Angelica

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

8 citationstop 4%

humanwhole-genome sequencing

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