Author

Erwin Frise

Ontario GenomicsORCID 0000-0002-9281-4567Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Edgar Javier HernandeziD· 3 shared Mark D. YandelliD· 3 shared Barry MooreiD· 2 shared Martin G. ReeseiD· 2 shared Martin Tristani‐FirouziiD· 2 shared Stephen Francis KingsmoreiD· 2 shared Alan H. BeggsiD· 1 shared Amy E. RobertsiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Edgar Javier HernandezORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery

W. Scott Watkins, Edgar Javier Hernandez, Thomas A. Miller, Nathan R. Blue, Raquel Mae Zimmerman, Eric R. Griffiths, Erwin Frise, Daniel Bernstein, Marko T. Boskovski, Martina K. Brueckner, Wendy K. Chung, James William Gaynor, Bruce D. Gelb, Elizabeth Goldmuntz, Peter J. Gruber, , Martin Tristani‐Firouzi

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

Nature Communications · Jul 10, 2025Peer-reviewedGenetic & Genomic Medicine

MPSE provides fast, flexible, and efficient means to identify newborns who will benefit from whole genome sequencing within the first 48 hours of NICU admission

Bennet D. Peterson, Edwin F. Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Jianrong Li, Yves A. Lussier, Martin Tristani‐Firouzi, Martin G. Reese, Sabrina Malone Jenkins, Stephen Francis Kingsmore, Matthew N. Bainbridge, Mark D. Yandell

The paper evaluates MPSE's performance in prioritizing NICU newborns for WGS within 48 hours using various ML classifiers, CNLP tools, and data types, finding high accuracy and flexibility.

medRxiv · Nov 5, 2024 · PreprintGenetic & Genomic Medicine

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette J. McCarthy, Edgar Javier Hernandez, Terence C. Wong, Kiely N. James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, André Franke, , Stephen Francis Kingsmore

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

Genome Medicine · Oct 13, 2021Peer-reviewedGenetic & Genomic Medicine