Author

Alexis Ferrasse

Stanford Medicine

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

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Organism:human· 4 Assay:whole-genome sequencing· 3 Assay:DNA methylation· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1

Frequent Co-Authors

John E. GorzynskiiD· 4 shared Euan Angus AshleyiD· 3 shared Calum A. MacRaeiD· 2 shared Chloe M. ReuteriD· 2 shared Jennefer N. CarteriD· 2 shared Matthew Thomas WheeleriD· 2 shared Tanner D. JenseniD· 2 shared Adeline Vanderver· 1 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

John E. GorzynskiORCID

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Author profile →

4 papers

Recent·Most cited

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

Yuta Yamamoto, Kaiser Chua, David Staudt, Alexis Ferrasse, Anna Kirillova, Hannah N. De Jong, Brendan J. Floyd, Christian Cadisch, Laurens Wiel, Qianru Wang, Matthew J. O’Neill, Daniel R. Tabet, John E. Gorzynski, Yong Huang, Fang Bai, , Victoria Nicole Parikh

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

Circulation · Jul 12, 2026Peer-reviewedGenetics

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski, Chloe M. Reuter, Jennefer N. Carter, Michael Blas, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, , Carlos A. Pardo-Villamizar

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

Genome biology · Jun 15, 2026Peer-reviewedGenetic & Genomic Medicine

Long-read genome sequencing and multi-omics in aging and neurodegeneration

Tanner D. Jensen, Yann Le Guen, Lia Talozzi, Sherry Yang, John E. Gorzynski, Andrés Peña‐Tauber, Ilaria Stewart, Alexis Ferrasse, Daniel C. Nachun, Taylor M. Maurer, Justin Lee, Rafael Catoia Pulgrossi, Jun Young Park, Jingyu Zhang, Anthony D. Wagner, , Michael D. Greicius

The paper uses long-read genome sequencing and multi-omics data to identify structural variants associated with aging and neurodegenerative diseases, finding that SVs are more likely to be causal than SNVs.

medRxiv · Oct 10, 2025 · PreprintGenetic & Genomic Medicine

Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome

John E. Gorzynski, Shruti Marwaha, Chloe M. Reuter, Tanner D. Jensen, Alexis Ferrasse, Archana Natarajan Raja, Liliana Fernández, Elijah Kravets, Jennefer N. Carter, Devon E. Bonner, Shirley C. Sutton, Undiagnosed Diseases Network (UDN), Maura R. Z. Ruzhnikov, Louanna Hudgins, Paul Graham Fisher, , Euan Angus Ashley

The paper applies complete long read sequencing to undiagnosed patients, identifying a 16kb intragenic duplication in EHMT1 causing Kleefstra syndrome.

medRxiv · Mar 28, 2024 · PreprintGenetic & Genomic Medicine