Author

Kenny Chen

Ambry Genetics (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Arthur Garcia· 1 shared Arthur KoiD· 1 shared Cathy Duong· 1 shared Changrui XiaoiD· 1 shared Charles Hadley S. KingiD· 1 shared Emmanuèle C. DélotiD· 1 shared Eric J. N. VilainiD· 1 shared Erica Smith· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Arthur Garcia

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1 paper

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