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.
A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility
This study looked at a two-stage association design using markers from a genome-wide study. They restricted their analysis to DNA polymorphisms and selected 22 SNPS. There were certain SNPs that were found to be relevant to breast cancer susceptibility in populations.
Hours spent and energy expended in physical activity domains: Results from The Tomorrow Projectcohort in Alberta, Canada
A survey called Past Year Total Physical Activity Questionnaire had 15591 participants that dealt with the amount of phyiscal activity each person got. Those who were considered inactive got most of their activty at work. One suggestion was that environmental and policy changes could be amended so that more energy could be expended, and there would be less sitting time.
From consent to institutions: Designing adaptive governance for genomic biobanks
This paper outlined four principles regarding biobank governance: 1) recognizing participants as one entity 2) integrity 3) adaptive management 4) fit between the nature of a particular biobank and the specific structural elements of governance adopted. BC Generations was a working model for further discussion the outlines of the proposed governance.
Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility
They performed a two-stage association study with a cohort of 3064 women . They did two various stages of the study. Stage I was looking at single nucleotide polymorphisms and Stage II was replicating specific markers from stage I. After doing the two stages they were able to identify various genetic regions and the SNPs discssed could serve as a potential candidate loci for breast cancer in another replication study.