Publications

2026

Ehman M, Montour L, Pollard S, Weymann D, Kirk D, Brown K, Epp S, Wadsworth D, Garrison NA, Laberge AM, Caron NR, Arbour L, Regier DA. Forced resilience: Indigenous perspectives on systemic barriers and humanizing genomic medicine in British Columbia, Canada. Genet Med. 2026 Jun;28(6):102555. doi: 10.1016/j.gim.2026.102555.

This study explores Indigenous perspectives on accessing and implementing genome sequencing for rare disease diagnosis in British Columbia. Participants identified systemic barriers, racism, and the burden of repeated self-advocacy as creating “forced resilience” within health care, and emphasized humanizing approaches grounded in respectful relationships, Indigenous patient navigation, cultural safety, and Indigenous perspectives on health and wellness.

2025

Li X, Yeganeh M, Sinclair G, Mwenifumbo J, Jacob KJ, Arbour L, Lehman A, Rakic B, Vaz FM, Horvath G, Tarailo-Graovac M, Stockler-Ipsiroglu S. Biallelic variants in BBOX1 cause L-carnitine deficiency and elevated γ-butyrobetaine. npj Genomic Medicine. 2025;10:64. doi:10.1038/s41525-025-00523-2.

This study identifies biallelic variants in BBOX1 as a cause of L-carnitine biosynthesis deficiency. Analysis of three patients from two unrelated families, combined with C. elegans models carrying patient-derived variants, demonstrated reduced L-carnitine and elevated γ-butyrobetaine and established a functional model for investigating BBOX1 deficiency.

Ehman M, Sharma K, Weymann D, Maroilley T, Mohajeri A, Lehman A, Tarailo-Graovac M, Jones SJM, Marra MA, Wasserman WW, Caron NR, Arbour L, Regier DA. The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases. Genetics in Medicine. 2025;27(11):101568. doi:10.1016/j.gim.2025.101568.

This microcosting study estimates the costs of diagnostic genome sequencing and bioinformatics for Indigenous children and families participating in the Silent Genomes Project. Sequencing costs decreased substantially over the study period, while bioinformatics remained a major cost driver, particularly when bespoke analyses were required because of limitations in existing reference genomic resources.

2024

Ehman M, Caron NR, Montour L, Regier DA. Qualitative genomic research with Indigenous peoples: a scoping review of participatory practice. BMJ Global Health. 2024;9. doi:10.1136/bmjgh-2024-015377.

This scoping review examines how participatory and community-led practices have been implemented in qualitative genomic research with Indigenous peoples in Canada, the United States, Australia, and New Zealand. Across 17 studies, it identifies diverse approaches to Indigenous-partnered governance, community engagement, and co-creation of research methods, while also identifying opportunities to strengthen participatory practice throughout the research lifecycle.

2022

Correard S, Hewitson B, van der Lee R, Wasserman WW. RevUP: an online scoring system for regulatory variants implicated in rare diseases. Bioinformatics. 2022;38(9):2664–2666. doi:10.1093/bioinformatics/btac157.

This article presents RevUP (Regulatory Evidence for Variants Underlying Phenotypes), an online tool for assessing the potential disease relevance of regulatory variants. RevUP integrates information from public databases with user-provided evidence across 24 criteria to calculate clinical, functional, and overall Regulatory Variant Evidence scores.

Frederiksen SD, Avramović V, Maroilley T, Lehman A, Arbour L, Tarailo-Graovac M. Rare disorders have many faces: in silico characterization of rare disorder spectrum. Orphanet Journal of Rare Diseases. 2022;17:76. doi:10.1186/s13023-022-02217-9.

Using Orphanet/Orphadata, Human Phenotype Ontology, pathway information, and computational analyses, this study characterizes differences across borderline-common, rare, and ultra-rare disorders. The findings suggest that unresolved genome-sequencing cases may include more complex genetic and phenotypic scenarios and support development of diagnostic pipelines capable of considering these possibilities.

2021

Maroilley T, Li X, Oldach M, Jean F, Stasiuk SJ, Tarailo-Graovac M. Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing. Scientific Reports. 2021;11:18258. doi:10.1038/s41598-021-97764-9.

This study demonstrates that short-read whole-genome sequencing, when combined with tailored analytical approaches, can resolve diverse structural variants and complex genomic rearrangements. Using experimentally validated C. elegans models, the work shows the potential of short-read sequencing to inform bioinformatics pipelines for systematic detection of complex rearrangements in human genomes.

Richmond PA, Av-Shalom TV, Fornes O, Modi B, Elliott AM, Wasserman WW. GeneBreaker: variant simulation to improve the diagnosis of Mendelian rare genetic diseases. Human Mutation. 2021;42(4):346–358. doi:10.1002/humu.24163.

This article introduces GeneBreaker, a framework for generating synthetic rare-disease genome scenarios containing known or novel gene-disrupting variants. The tool enables benchmarking of variant-calling and prioritization pipelines without requiring clinically sensitive patient genomes and can also be used for training in genomic diagnostics.

2020

van der Lee R, Correard S, Wasserman WW. Deregulated regulators: disease-causing cis variants in transcription factor genes. Trends in Genetics. 2020;36(7):523–539. doi:10.1016/j.tig.2020.04.006.

This review examines disease-causing cis-regulatory variants affecting transcription factor genes and other master regulators. Based on a curated set of 46 regulatory variants involving 40 transcription factor genes, it proposes an evidence framework for evaluating regulatory variant pathogenicity and highlights the potential value of incorporating non-coding regulatory variation into rare-disease genome interpretation.

Caron NR, Chongo M, Hudson M, Arbour L, Wasserman WW, Robertson S, Correard S, Wilcox P. Indigenous genomic databases: pragmatic considerations and cultural contexts. Frontiers in Public Health. 2020;8:111. doi:10.3389/fpubh.2020.00111.

Using the Silent Genomes Project in Canada and the Aotearoa Variome in New Zealand as examples, this article examines the scientific, ethical, and cultural considerations involved in creating Indigenous background variant databases. It describes approaches intended to improve genomic diagnosis while respecting Indigenous governance, culturally safe research practices, and community interests in genomic data.

Hudson M, Garrison NA, Sterling R, Caron NR, Fox K, Yracheta J, Anderson J, Wilcox P, Arbour L, Brown A, Taualii M, Kukutai T, Haring R, Te Aika B, Baynam GS, Dearden PK, Chagné D, Malhi RS, Garba I, Tiffin N, Bolnick D, Stott M, Rolleston AK, Ballantyne LL, Lovett R, David-Chavez D, Martinez A, Sporle A, Walter M, Reading J, Carroll SR. Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data. Nature Reviews Genetics. 2020;21(6):377–384. doi:10.1038/s41576-020-0228-x.

This perspective examines tensions between unrestricted genomic data sharing and Indigenous rights and interests. It identifies trust, accountability, equity, governance, and community participation as central considerations and proposes principles and actions for genomic researchers to recognize Indigenous rights and interests when collecting, managing, and sharing genomic data.

2019

Garrison NA, Hudson M, Ballantyne LL, Garba I, Martinez A, Taualii M, Arbour L, Caron NR, Carroll Rainie S. Genomic research through an Indigenous lens: understanding the expectations. Annual Review of Genomics and Human Genetics. 2019;20:495–517. doi:10.1146/annurev-genom-083118-015434.

This review compares Indigenous genomic research guidelines from Canada, New Zealand, Australia, and the United States. It identifies common expectations and areas requiring further attention and emphasizes Indigenous-led governance, protection from group harms, institutional accountability, and development of culturally appropriate genomic research policies.

Maroilley T, Tarailo-Graovac M. Uncovering Missing Heritability in Rare Diseases. Genes. 2019;10(4):275. doi:10.3390/genes10040275.

This review examines the problem of “missing heritability” in rare diseases and evaluates how sequencing technologies, bioinformatics methods, variant detection and annotation approaches, and population variation resources can improve diagnosis. It highlights the potential of whole-genome sequencing and more comprehensive computational analyses to identify genetic causes that remain undetected by conventional diagnostic approaches.