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Open AccessA cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. ...
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Article
Open AccessGenomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in...
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Article
Open AccessA small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada
Québec was the Canadian province most impacted by COVID-19, with 401,462 cases as of September 24th, 2021, and 11,347 deaths due mostly to a very severe first pandemic wave. In April 2020, we assembled the Cor...
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Article
Open AccessA coordinated progression of progenitor cell states initiates urinary tract development
The kidney and upper urinary tract develop through reciprocal interactions between the ureteric bud and the surrounding mesenchyme. Ureteric bud branching forms the arborized collecting duct system of the kidn...
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Open AccessAuthor Correction: Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessSingle-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy
Cancer stem cells are critical for cancer initiation, development, and treatment resistance. Our understanding of these processes, and how they relate to glioblastoma heterogeneity, is limited. To overcome the...
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Article
Open AccessLatency and interval therapy affect the evolution in metastatic colorectal cancer
While comparison of primary tumor and metastases has highlighted genomic heterogeneity in colorectal cancer (CRC), previous studies have focused on a single metastatic site or limited genomic testing. Combinin...
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Open AccessK27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are devastating brain tumors with no effective therapy. Here, we investigated clinical and biological impacts of histone H3.3 mu...
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Open AccessModeling the effect of PTPN22in rheumatoid arthritis
In order to model the effect of PTPN22 on rheumatoid arthritis (RA), we determined the combination of single-nucleotide-polymorphisms (SNPs) showing the strongest association with RA. Three SNPs (rs2476601-rs1273...
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Open AccessPower of the 2-locus TDT for testing the interaction of two susceptibility genes
We recently proposed a new strategy: 2-locus TDT for detecting two susceptibility genes through their interaction in trio families. We apply our method to two candidate genes, A and C, on the Genetic Analysis ...
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Open AccessModeling the effect of a genetic factor for a complex trait in a simulated population
Genetic Analysis Workshop 14 simulated data have been analyzed with MASC(marker association segregation chi-squares) in which we implemented a bootstrap procedure to provide the variation intervals of paramete...
