Simon Girard

A population-based resource for the prioritization of rare variants of unknown significance in clinical genomics

The paper identifies rare founder variants in a population and develops a platform for variant prioritization, showing that some pathogenic variants may be missed by conventional methods.

A haplotype-based approach for myotonic dystrophy type 1

This paper identifies a DM1-associated haplotype in all patients using haplotype-based methods, demonstrating its utility for carrier status inference without direct repeat sizing.

Fine-scale structure of a whole regional population through genetics and genealogies

This study reveals fine-scale genetic structure in the Saguenay-Lac-Saint-Jean region using genotype data and genealogies, showing a genetic gradient and historical migration patterns.

Copy Number Variant Duplications Associated with Essential Tremor

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

A multi-ancestry genetic reference for the Quebec population

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

Aligning gene trees with family trees

The paper introduces an algorithm to align genetic tree sequences with genealogical pedigrees, demonstrating its scalability and application to reconstruct allele inheritance.

Rare diseases load through the study of a regional population

This study identifies rare genetic variants in a Quebec population with a founder effect, validates known variants, discovers new ones, and highlights their clinical relevance.

Rare variants and founder effect in an understudied Quebec population

The paper identifies rare pathogenic variants with higher carrier rates in the Beauce region of Quebec due to a regional founder effect, highlighting the need for fine-scale population structure studies.

RetroFun-RVS: a retrospective family-based framework for rare-variant analysis incorporating functional annotations

RetroFun-RVS is a family-based rare-variant analysis method that integrates functional annotations to improve power and interpretability in complex disease studies.

Fine-scale genetic structure and rare variant frequencies

The paper highlights the importance of fine-scale population structure in genetic studies, showing that smaller cohorts with distinct structure have higher rare variant frequencies, aiding in new genetic variant discovery.

Unraveling the role of non-coding rare variants in epilepsy

This study investigates the association between rare non-coding deleterious variants and epilepsy, finding a significant link with genetic generalized epilepsy (GGE) but not with non-acquired focal epilepsy (NAFE).

Deciphering the genetic structure of the Quebec founder population using genealogies

This paper uses genealogies to trace the demographic history of the Quebec founder population, revealing how regional founder effects shaped population structure and genetic diversity over time.

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

This study assesses CNV burden and segregation in epilepsy patients and controls, finding enrichment of large deletions in genetic generalized epilepsies but no support for unmasked variants or double CNVs explaining incomplete penetrance.

Global prevalence of potentially pathogenic short-tandem repeats in an epilepsy cohort

The paper identifies a potential pathogenic STR expansion in an epilepsy cohort using whole genome sequencing and three software tools, highlighting discrepancies in variant calling.

Polygenic risk scores of several subtypes of epilepsies in a founder population

The paper calculates polygenic risk scores for epilepsy subtypes in a French-Canadian cohort and finds they provide reliable genetic contribution estimates, though clinical use requires further study.

Genome-wide estimates of heritability and genetic correlations in Essential Tremor

This study estimates heritability and genetic correlations for essential tremor using genome-wide data, finding high heritability and no significant genetic overlap with Parkinson's disease or restless legs syndrome.

Human copy number variants are enriched in regions of low mappability

The paper identifies recurrent copy number variants in low-mappability regions using PopSV, finding they are 5 times more common in germline than somatic CNVs.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

This study uses whole-genome sequencing and a new algorithm to comprehensively characterize copy number variants in epilepsy patients and controls, finding enrichment of rare exonic and non-coding variants.