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Pleiotropy-robust Mendelian randomization [PDF]
International Journal of Epidemiology, 2016 AbstractBackgroundThe potential of Mendelian Randomization studies is rapidly expanding due to (i) the growing power of GWAS meta-analyses to detect genetic variants associated with several exposures, and (ii) the increasing availability of these genetic variants in large-scale surveys.
van Kippersluis, Hans +1 more
openaire +3 more sources
Genome-wide association study identifies common and low-frequency variants at the AMHgene locus that strongly predict serum AMH levels in males [PDF]
, 2016 Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females.
Day, Felix R. +5 more
core +1 more source
Wellcome Open Research, 2020 The MendelianRandomization package is a software package written for the R software environment that implements methods for Mendelian randomization based on summarized data. In this manuscript, we describe functions that have been added to the package or
Jim R. Broadbent +5 more
doaj +1 more source
Can we apply the Mendelian randomization methodology without considering epigenetic effects?
Emerging Themes in Epidemiology, 2009 Introduction Instrumental variable (IV) methods have been used in econometrics for several decades now, but have only recently been introduced into the epidemiologic research frameworks.
Karmaus Wilfried +2 more
doaj +1 more source
Metabolomic Profiling of Statin Use and Genetic Inhibition of HMG-CoA Reductase [PDF]
, 2015 Background Statins are first-line therapy for cardiovascular disease prevention, but their systemic effects across lipoprotein subclasses, fatty acids, and circulating metabolites remain incompletely characterized.
Ala-Korpela, M +25 more
core +2 more sources
Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance [PDF]
Journal of Neurochemistry, 2016 Abstract Parkinson's disease is a common, progressive neurodegenerative disorder, affecting 3% of those older than 75 years of age. Clinically, Parkinson's disease ( PD ) is associated with resting tremor, postural instability,
Hernandez, Dena G +2 more
openaire +2 more sources
Serum resistin is causally related to mortality risk in patients with type 2 diabetes: Preliminary evidences from genetic data [PDF]
, 2017 Resistin has been firmly associated with all-cause mortality. We investigated, whether, in patients with type 2 diabetes (T2D), this association is sustained by a cause-effect relationship.
Cignarelli, Mauro +9 more
core +1 more source
Nature Genetics, 2015 Genetic comparison of the effects of mutant and wild-type alleles is a powerful way to define gene function. But those few disease-causing variants that provide qualitatively different insights into the disease mechanisms of more common sporadic diseases have the greatest translational value.
openaire +2 more sources
Mendelian and non-Mendelian genetics in model plants
The Plant Cell, 2022 Abstract The “Mendelian Rules” of inheritance are cornerstones of genetics, described in Mendel’s seminal publication from 1866. The experimental results and their interpretation have been discussed in numerous ways. This perspective emphasizes the contribution of Mendel’s preparations prior to his crossing experiments to the discovery ...
openaire +2 more sources
Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]
, 2012 The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth +2 more
core +4 more sources