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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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From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three decades were anticipated to result in many innovative therapies. Here we investigate the extent to which these expectations h...
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Open AccessPathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders
Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general populati...
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Open AccessEstimated prevalence of Niemann–Pick type C disease in Quebec
Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose....
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Author Correction: Population genomics of the Viking world
A Correction to this paper has been published: https://doi.org/10.1038/s41586-021-03328-2.
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Population genomics of the Viking world
The maritime expansion of Scandinavian populations during the Viking Age (about ad 750–1050) was a far-flung transformation in world history1,2. Here we sequenced the genomes of 442 humans from archaeological sit...
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Open AccessRefined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales
In humans, males have lower recombination rates than females over the majority of the genome, but the opposite is usually true near the telomeres. These broad-scale differences have been known for decades, yet...
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Genomic and genealogical investigation of the French Canadian founder population structure
Characterizing the genetic structure of worldwide populations is important for understanding human history and is essential to the design and analysis of genetic epidemiological studies. In this study, we exam...
