Author

Kirsten Blanco

Children's Hospital of Orange CountyORCID 0000-0002-8796-3744Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Rebekah BarrickiD· 2 shared 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 Arthur Garcia· 1 shared Arthur KoiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rebekah BarrickORCID

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2 papers

Recent·Most cited

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

Georgia Pitsava, Krista K. Bluske, Rebekah Barrick, Ivan De Dios, Cathy Duong, Kirsten Blanco, Sami Belhadj, Nida Karra, Sarah L. Stenton, Arthur Garcia, Erica Smith, Miguel Almalvez, Arthur Ko, John Harting, Stuti Joshi, , Eric J. N. Vilain

This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.

medRxiv · Sep 10, 2026 · PreprintGenetic & Genomic Medicine

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

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander D. Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julián A. Martínez-Agosto, Richard I. Sherwood, , 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.

Nature Communications · Aug 6, 2025Peer-reviewedGenetics