Author

Olivia Rennie

Hospital for Sick ChildrenORCID 0000-0002-9441-978XUnclaimed 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· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:large language model· 1

Frequent Co-Authors

Jacob A. S. VorstmaniD· 4 shared Jennifer Howe· 3 shared Ny HoangiD· 3 shared Stephen W. SchereriD· 3 shared Worrawat EngchuaniD· 3 shared Alana Iaboni· 2 shared Brett TrostiD· 2 shared Christian R. MarshalliD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Jacob A. S. VorstmanORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genes/variants for diagnostic testing and pre-clinical research in autism spectrum disorder

Nelson Bautista Salazar, Olivia Rennie, Worrawat Engchuan, Julian Dean Moran, Vinícius Furlan, Xiaopu Zhou, Natalia Rivera-Alfaro, Jennifer Howe, Ny Hoang, Kristian A. Torres-Bonilla, Kristof Bosovicar, Katlin B. Massirer, Carl Laflamme, A.M. Edwards, Karun Kar Singh, , Stephen W. Scherer

The paper curates 222 genes associated with autism spectrum disorder (ASD) using the EAGLE framework, identifying 78 with definitive evidence and highlighting differential expression patterns between ASD and broader neurodevelopmental disorders.

medRxiv · Jun 22, 2026 · PreprintGenetic & Genomic Medicine

EAGLE-AI: A large language model workflow for automated extraction and scoring of literature evidence linking genes to autism spectrum disorder

Vinícius Furlan, Julian Moran, Nelson Bautista Salazar, Olivia Rennie, Ny Hoang, Andrew wan, Marla Mendes de Aquino, Worrawat Engchuan, Jacob A. S. Vorstman, Stephen W. Scherer

EAGLE-AI automates gene-autism linkage evidence extraction and scoring with high accuracy, though challenges remain in handling unscreened papers and supplementary materials.

medRxiv · Sep 10, 2025 · PreprintGenetic & Genomic Medicine

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe, Livia Oliveira Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, , Evdokia A. Anagnostou

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

medRxiv · May 5, 2022 · PreprintGenetic & Genomic Medicine

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia Oliveira Loureiro, Jennifer Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan M Moses, Julie Deborah Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, , Stephen W. Scherer

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

npj Genomic Medicine · Nov 4, 2021Peer-reviewedGenetic & Genomic Medicine