Results 51 to 60 of about 236,698 (345)

Statistical Methods for cis-Mendelian Randomization with Two-sample Summary-level Data [PDF]

arXiv, 2021
Mendelian randomization is the use of genetic variants to assess the existence of a causal relationship between a risk factor and an outcome of interest. Here, we focus on two-sample summary-data Mendelian randomization analyses with many correlated variants from a single gene region, and particularly on cis-Mendelian randomization studies which use ...
arxiv  

The effect of FTO variation on increased osteoarthritis risk is mediated through body mass index : a mendelian randomisation study [PDF]

, 2013
Objective: Variation in the fat mass and obesity-associated (FTO) gene influences susceptibility to obesity. A variant in the FTO gene has been implicated in genetic risk to osteoarthritis (OA).
Arden, N., Cicuttini, Flavia M., Cooper, Cyrus, Doherty, Michael, Doherty, Sally A., Hart, Deborah J., HASH(0x561871f969d0), Jones, Graeme, Laslett, Laura L., Maciewicz, Rose A., Metrustry, Sarah, Muir, Kenneth, Panoutsopoulou, Kalliope, Spector, T. D., Valdes, Ana M., Wheeler, Margaret, Zeggini, Eleftheria, Zhang, Weiya   +17 more
core   +1 more source

Equus in Online Mendelian Inheritance in Animals (OMIA)

Animals
Online Mendelian Inheritance in Animals (OMIA is a freely available information resource, which includes information for Equus inherited traits/diseases (collectively called phenes).
Imke Tammen, Ernest Bailey, Marius Mather, Frank W. Nicholas   +3 more
doaj   +1 more source

Genes in the postgenomic era [PDF]

, 2006
We outline three very different concepts of the gene - 'instrumental', 'nominal', and 'postgenomic'. The instrumental gene has a critical role in the construction and interpretation of experiments in which the relationship between genotype and phenotype ...
B. Alberts, B. Alberts, C. Finta, C. Kenneth Waters, C. Kenneth Waters, C. Kenneth Waters, D. Communi, D. Kampa, E.M. Neumann-Held, Frederic L. Holmes, G. Stent, George C Williams, Karola Stotz, Karola Stotz, Karola Stotz, Kim Sterelny, Lenny Moss, M Burian Richard, M.W Gray, Marcel Weber, Michael Morange, Michael R Dietrich, Michael R Dietrich, Niall Dillon, P. Kapranov, P.S.R. Coelho, Paul E. Griffiths, Pavel V. Baranov, Petter Portin, Raphael Falk, Raphael Falk, Richard Dawkins, Richard Dawkins, Robert C Olby, T. Blumenthal, Thomas Hunt Morgan, Thomas Kuhn, Thomas. Fogle, Y. Chapdelaine   +38 more
core   +2 more sources

Induced mutations for studying Mendelian inheritance

Journal für Kulturpflanzen, 2022
All genetic variation results from mutations. Orders of magnitude can increase mutation rates by applying irradiation or chemical treatment. Genome editing offers new perspectives for mutation induction because mutation sites can be precisely targeted ...
Christian Jung
doaj   +1 more source

Unraveling the directional link between adiposity and inflammation: a bidirectional mendelian randomization approach [PDF]

, 2010
<b>Context</b>: Associations between adiposity and circulating inflammation markers are assumed to be causal, although the direction of the relationship has not been proven. <b>Objective</b>: The aim of the study was to explore
Anton J. M. de Craen, Aroon D. Hingorani, Birjmohun, Brendan M. Buckley, Brunner, Casas, Cecil, Chris J. Packard, Davey Smith, Davey Smith, David J. Stott, Drenos, Eliana Polisecki, Ernst Schaefer, Frayling, Freathy, George Davey Smith, Hamer, Hardy, Hingorani, Hingorani, Hingorani, Hubacek, Ian Ford, J. Wouter Jukema, James Shepherd, Lawlor, Li, Loos, Michele Robertson, Micozzi, Naveed Sattar, Paul Welsh, Pepys, Pepys, Peter W. Macfarlane, Phillips, Qi, Rogge, Rudi G. J. Westendorp, Sabine Jahn, Sattar, Shepherd, Shepherd, Shimizu, Sieh, Smith, Smith, Tennent, Timpson, Timpson, Timpson, Timpson, Verzilli, Wardle, Wärnberg, Welsh, Welsh   +57 more
core   +2 more sources

A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

Orphanet Journal of Rare Diseases
Background Paroxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals.
Amanda Worker, Hadley Mahon, Jack Sams, Freya Boardman-Pretty, Elena Marchini, Rand Dubis, Alan Warren, Jez Stockdale, Jyothika Kumar, Elizabeth Varones, Daniel Ollerenshaw, Calum Grant, Peter Fish, Richard J. Kelly   +13 more
doaj   +1 more source

Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

Nature Communications, 2021
Mendelian Randomization approaches are being increasingly refined, but certain statistical limitations hinder their application to GWAS. Here, the authors propose a new Mendelian Randomization method to estimate bi- directional causal effects and ...
Liza Darrous, Ninon Mounier, Zoltán Kutalik   +2 more
doaj   +1 more source

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. [PDF]

, 2018
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care ...
Bjonnes, Andrew, Briere, Lauren C, Carmichael, Nikkola, Cassa, Christopher A, Chopra, Sameer S, Fay, Christopher J, Feldweg, Anna, Fieg, Elizabeth, Frank, Alexander, Frank, Natasha Y, Goessling, Wolfram, Green, Robert C, Gupta, Vandana A, Haghighi, Alireza, Hanna, Meredith, Klein, Ophir D, Kooshesh, Kameron, Krier, Joel B, Leshchiner, Ignaty, Liao, Eric, Lincoln, Sharyn, Loscalzo, Joseph, Lucia, Stephanie, Maas, Richard L, MacRae, Calum A, Mannstadt, Michael, Mohanty, Anwoy, Nowak, Catherine B, Ouahed, Jodie, Pantazi, Angeliki, Patsopoulos, Nikolaos A, Perroni, Victoria, Perry, Hazel, Qiu, Haiyan, Raychaudhuri, Soumya, Sanchez-Lara, Pedro A, Seidman, Christine E, Snapper, Scott B, Stitziel, Nathan O, Stoler, Joan M, Sunyaev, Shamil R, Sutti, Sheila, Sweetser, David A, Söylemez, Onuralp, Toth-Petroczy, Agnes, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM), Valerius, Jamie, Vuzman, Dana   +47 more
core  

Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk. [PDF]

, 2016
ObjectiveWe sought to estimate the causal effect of low serum 25(OH)D on multiple sclerosis (MS) susceptibility that is not confounded by environmental or lifestyle factors or subject to reverse causality.MethodsWe conducted mendelian randomization (MR ...
Alfredsson, Lars, Barcellos, Lisa F, Bäärnhielm, Maria, Gianfrancesco, Milena, Glymour, M Maria, Gyllenberg, Alexandra, Hedström, Anna Karin, Hillert, Jan, Kockum, Ingrid, Link, Jenny, Mok, Amanda, Olsson, Tomas, Quach, Hong, Rhead, Brooke, Schaefer, Catherine, Shao, Xiaorong, Shen, Ling   +16 more
core   +1 more source