Author

Rena J. Vanzo

BioNano Genomics (United States)ORCID 0000-0001-7941-0106Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Megan M. MartiniD· 2 shared Moises A. SerranoiD· 2 shared Andy P. Peiffer· 1 shared Brynn LevyiD· 1 shared Charles H. HenseliD· 1 shared Christophe Gerard LambertiD· 1 shared Colleen G. BilanciaiD· 1 shared Edward Robert WassmaniD· 1 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenomics

Megan M. MartinORCID

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2 papers

Recent·Most cited

NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous System

Kyle Davis, Colleen G. Bilancia, Megan M. Martin, Rena J. Vanzo, Megan Rimmasch, Yolanda Hom, Mohammed J. Uddin, Moises A. Serrano

NeuroSCORE scores 19,598 genes based on five CNS-related metrics, identifying 1,580 high-scoring genes significantly associated with CNS phenotypes.

bioRxiv · Feb 4, 2021 · PreprintGenomics

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

Charles H. Hensel, Rena J. Vanzo, Megan M. Martin, Sean Dixon, Christophe Gerard Lambert, Brynn Levy, Lesa M. Nelson, Andy P. Peiffer, Karen S. Ho, Patricia Rushton, Moises A. Serrano, Sarah T. South, Kenneth J. Ward, Edward Robert Wassman

This paper validates the analytical and clinical utility of FirstStepDx PLUS, a chromosomal microarray optimized for neurodevelopmental conditions, showing its effectiveness in detecting copy number variants using buccal and blood samples.

PLoS Currents · Jan 1, 2017Peer-reviewedGenomics