Results 41 to 50 of about 314,978 (365)

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Nucleic Acids Res., 2004
Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
A. Hamosh, A. F. Scott, J. Amberger, Carol A. Bocchini, V. McKusick   +4 more
semanticscholar   +1 more source

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

The effect of genomic information on optimal contribution selection in livestock breeding programs [PDF]

, 2013
BACKGROUND: Long-term benefits in animal breeding programs require that increases in genetic merit be balanced with the need to maintain diversity (lost due to inbreeding). This can be achieved by using optimal contribution selection. The availability of
Clark, Samuel A, Hickey, John M, Kinghorn, Brian P, van der Werf, Julius Hj   +3 more
core   +2 more sources

Guidelines for performing Mendelian randomization investigations: update for summer 2023

Wellcome Open Research, 2019
This paper provides guidelines for performing Mendelian randomization investigations. It is aimed at practitioners seeking to undertake analyses and write up their findings, and at journal editors and reviewers seeking to assess Mendelian randomization ...
S. Burgess, G. D. Smith, N. Davies, F. Dudbridge, D. Gill, M. M. Glymour, F. Hartwig, Z. Kutalik, M. Holmes, C. Minelli, Jean V Morrison, W. Pan, C. Relton, E. Theodoratou, S. Swanson   +14 more
semanticscholar   +1 more source

MendelianRandomization v0.5.0: updates to an R package for performing Mendelian randomization analyses using summarized data [version 2; peer review: 1 approved, 2 approved with reservations]

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, Christopher N. Foley, Andrew J. Grant, Amy M. Mason, James R. Staley, Stephen Burgess   +5 more
doaj   +1 more source

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, Sabatti, Chiara, Zhang, Zhongyang   +2 more
core   +4 more sources

Proteome-wide Mendelian randomization implicates nephronectin as an actionable mediator of the effect of obesity on COVID-19 severity

Nature Metabolism, 2023
How obesity contributes to COVID-19 severity is not fully understood. In this study, Yoshiji et al. found that the plasma protein nephronectin partially mediates the effect of obesity on the risk of COVID-19 severity using a two-step Mendelian ...
S. Yoshiji, G. Butler-Laporte, Tianyuan Lu, J. Willett, Chen-Yang Su, T. Nakanishi, D. Morrison, Yiheng Chen, Kevin Y. H. Liang, M. Hultström, Y. Ilboudo, Z. Afrasiabi, S. Lan, N. Duggan, Chantal DeLuca, Mitra Vaezi, C. Tselios, X. Xue, Meriem Bouab, Fangyi Shi, Laetitia Laurent, Hans Markus Münter, M. Afilalo, J. Afilalo, V. Mooser, N. Timpson, H. Zeberg, Sirui Zhou, Vincenzo Forgetta, Y. Farjoun, J. B. Richards   +30 more
semanticscholar   +1 more source

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., Lawlor, Debbie A., McMahon, George, Nelson, Scott M., Perry, John R.B., Ring, Susan M.   +5 more
core   +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, Zhang Hongmei, Ogbuanu Ikechukwu U   +2 more
doaj   +1 more source

Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes [PDF]

, 2018
Mortality rate is increased in type 2 diabetes (T2D). Low vitamin D levels are associated with increased mortality risk in T2D. In the general population, genetic variants affecting vitamin D metabolism (DHCR7 rs12785878, CYP2R1 rs10741657, GC rs4588 ...
Alessi, Elena, Bagella, FRANCESCO MARIA, Bailetti, Diego, Barchetta, Ilaria, Baroni Marco, Giorgio., Bertoccini, Laura, Buzzetti, Raffaella, Capoccia, Danila, Cavallo, Maria Gisella, Coccia, Federica, Conti, Francesco, Copetti, Massimiliano, Cossu, Efisio, D'Angelo, Paola, D'Onofrio, Luca, De Cosmo, Salvatore, Di Mauro, Lazzaro, Filardi, Tiziana, Gianluca, Margiotta, Giulia, Leanza, Incani, Michela, Leonetti, Frida, Maria Giovanna Scarale,, Morano, Susanna, Moretti, Chiara, Morviducci, Lelio, Napoli, Nicola, Pamela, Piscitelli, Pezzilli, Serena, Pibiri, Carlotta, Prudente, Sabrina, Pugliese, Giuseppe, Sentinelli, Federica, Silvia, Carletti, SUMMER Study in Diabetes Group (Summer,, Tavaglione, Federica, Trischitta, Vincenzo   +36 more
core   +1 more source