Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
This study indicated that French populations contain a larger proportion of putatively damaging functional variants which could explain incidence of genetic disease in the province. There is a need for deep cataloguing of genetic variants by rescheduling worldwide human populations in order to truly assess disease risk.
Exploiting gene expression variation to capture gene-environment interactions for disease
The two researchers surveyed the current state of the concept of transcriptional gene-environment interactions and discuss its utility for mapping disease genotypes. The article noted human transcriptome is still fairly new in the literature and could have more information brought about it.
Identification of a Breast Cancer Susceptibility Locus at 4q31.22 Using a Genome-Wide Association Study Paradigm
The study design also encompassed the 11 variants from GWASs previously reported by various consortia between the years 2007-2009 to (i) enable comparisons of effect sizes, and (ii) identify putative prognostic variants across studies. All SNP associations reported with breast cancer were also adjusted for body mass index (BMI). We report a strong association with 4q31.22-rs1429142 (combined per allele odds ratio and 95% confidence interval = 1.28 [1.17-1.41] and P combined = 1.5×10(-7)), when adjusted for BMI.
Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics
Over 20 000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Cogenital Multiple Intestinal Atresia is a fatal disorder that can cause organs to shutdown and obstructions in the small and large intestines. They looked a 5 different families to determine the gene structure and found that TTC7A is likely a causal gene for MIA.
Assessing SNP-SNP Interactions among DNA Repair, Modification and Metabolism Related Pathway Genes in Breast Cancer Susceptibility
Our results provide a framework for evaluating SNPs showing statistically weak but reproducible single-locus effects for epistatic effects contributing to disease susceptibility.
ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction
This study looked at ways of getting around the limits of self-declared ancestry, ancestry information markers, genomic control, structured association, and principal component analysis. They found ETHNOPRED to be a good alternative.
Breast cancer prediction using genome wide single nucleotide polymorphism data
These researchers studied 696 female participants and used an SNC model to determine whether a new subject would develop breast cancer or not.
Linking Canadian Population Health Data: Maximizing the Potential of Cohort and Administrative Data
Linking data collected by large cohort studies would afford ways for great research to advance and get information about disease. This article affirms that the cohorts are aware of the challenges involved, and are committed to working hard with stakeholders.
Prevalence of meeting physical activity guidelines for cancer prevention in Alberta
They looked at the guidelines for physical activity of 14294 particpants between the ages of 35-64 and found 23-55% of participants met the guidelines, depending on which one they were being measured against (CSEP, ACS, USDHHS, WCRF/AICR). Women were less likely to reach certain guidelines than men were. Study concluded that people in Alberta, mostly women were not active enough for cancer prevention benefits.