A haplotype-based normalization technique for the analysis and detection of allele specific expression
The research team examined allele specific expression which can be an identifier for disease loci. They were able to sequence exomes from CARTaGENE cohort and find a significant association between the proportion of sites undergoing ASE within the genome and smoking.
Dietary assessment is a critical element of health research – Perspective from the Partnership for Advancing Nutritional and Dietary Assessment in Canada
This was an opinion based paper which argued that while assessing dietary intakes is difficult, it`s not impossible. They believe that building capacity and funding opportunities should be readily available in order to build research. If they were to have these, there would be better understanding in Canada and elsewhere.
Impact of the X Chromosome and sex on regulatory variation
The research team analyzed blood transcriptomes of 922 individuals and they were able to conduct the first large-scale genome wide analysis of sex/genetic variation patterns. They generated chromatin and were able to develop genome-wide insight into how genetic variation shape human gene regulation and disease.
Central blood pressures in early chronic kidney disease: an analysis of CARTaGENE
The research question for this study was whether CKD is associated with high blood pressure. They found that early CKD is not associated with detrimental central hemodynamic parameters.
Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia
This study used encoding genetics to determine the relationship of schizophrenia
Heart rate dependent and independent effects of beta-blockers on central hemodynamic parameters: a propensity score analysis
In this article they looked the association between beta-blocker use, heart rate, and central hemodynamics in hypertensive CARTaGENE participants. They looked at 20004 people and determined that there were unfavourable central hemodynamic profile of beta-blocker has both HR-dependent and HR-indepdent components that are similar for all frequency used beta1 selective blocker.
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
In this study, they looked at mutations of MATR3 (gene that is associated with ALS). They assessed the frequency in French Canadian populations and had a control group. They were able to determine which proteins are associated with ALS.
Recombination affects accumulation of damaging and disease-associated mutations in human populations
Using high-coverage sequencing data from over 1,400 individuals in the 1000 Genomes and CARTaGENE projects, we show that recombination rate modulates the distribution of putatively deleterious variants across the entire human genome.
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE.
High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation
The researchers sequenced ~1000 individuals mitochondrial RNA and a significant variation of sequences that show patterns of posttranscriptional modication. CARTaGENE samples were used to identify this information.