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Previous research has identified certain genes that confer a higher risk of the disease, but scientists believe there are many more genetic risk factors that have yet to be discovered. One reason why these drivers have been hard to find is that some are found in very few patients, making it...
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. HGPS is characterized by accelerated aging, severe atherosclerosis, and premature death at a...
every three years, and the results are analyzed by two independent experts. But interpreting the scans leaves room for error, and a small percentage of all mammograms either return a false positive—misdiagnosing(误诊) a healthy patient as having cancer-or false negative—missing the disease as ...
Genetic variation in LIN28B is associated with the timing of puberty. Nat. Genet. 41, 729–733 (2009). CAS PubMed PubMed Central Google Scholar Perry, J.R. et al. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat. Genet. 41, 648–650...
Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders. Genome-wide association studies have delivered on the promise of uncovering genetic determinants of complex disease. In this review, we provide a summary o... H Hakonarson,SFA Grant ...
Linear regression models were fit for each epigenetic age against the allelic dose of each genetic variant, adjusting for age at sampling, sex, and cancer treatment exposures. Fixed-effects meta-analysis was used to combine summary statistics from two discovery data sets. LD (Linkage disequilibrium...
Methods: We considered five variants that were associated with coronary heart disease in two studies and confirmed in the Atherosclerosis Risk in Communities study: rs20455 (KIF6), rs3900940 (MYH15), rs7439293 (PALLD), rs2298566 (SNX19), and rs1010 (VAMP8). We calculated a genetic risk ...
(OS). PFS was defined as period from the first day of randomization start to the first observation of disease progression or death from any cause. OS was calculated from the first day of randomization start to the date of death by any cause. Patients were censored at the date of last ...
Professor Mackenzie explains, "We already know that 95% of thegenetic differencesassociated with disease are found outside of protein coding genes. This part of the genome, known as the 'non-coding genome' has not been well explored because we previously lacked the tools to do so. ...