Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
作者信息
Weedon Michael N, Wright Caroline F, Patel Kashyap A, Frayling Timothy M
机构信息
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.
出版信息
Cell. 2021 Apr 1;184(7):1651. doi: 10.1016/j.cell.2021.03.015.
Abstract
摘要
相似文献
1
Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Cell. 2021 Apr 1;184(7):1651. doi: 10.1016/j.cell.2021.03.015.
2
Reply to Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Cell. 2021 Apr 1;184(7):1652-1653. doi: 10.1016/j.cell.2021.03.014.
3
Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.
Arch Dermatol Res. 2013 Apr;305(3):249-53. doi: 10.1007/s00403-012-1296-3. Epub 2012 Nov 5.
4
The genetic epidemiology of melanocortin 4 receptor variants.
Eur J Pharmacol. 2011 Jun 11;660(1):156-64. doi: 10.1016/j.ejphar.2011.01.033. Epub 2011 Feb 2.
5
MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.
BMC Med Genet. 2019 Aug 20;20(1):144. doi: 10.1186/s12881-019-0876-x.
6
Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants.
Int J Obes (Lond). 2014 Aug;38(8):1068-74. doi: 10.1038/ijo.2013.221. Epub 2013 Nov 26.
7
The Effect Sizes of rs1801282 rs9939609, and rs2229616 Variants on Type 2 Diabetes Mellitus Risk among the Western Saudi Population: A Cross-Sectional Prospective Study.
Genes (Basel). 2020 Jan 14;11(1):98. doi: 10.3390/genes11010098.
8
A polymorphism in the melanocortin 4 receptor gene (MC4R:c.92C>T) is associated with diabetes mellitus in overweight domestic shorthaired cats.
J Vet Intern Med. 2014 Mar-Apr;28(2):458-64. doi: 10.1111/jvim.12275. Epub 2013 Dec 26.
9
The MC4R genetic variants are associated with lower visceral fat accumulation and higher postprandial relative increase in carbohydrate utilization in humans.
Eur J Nutr. 2019 Oct;58(7):2929-2941. doi: 10.1007/s00394-019-01955-0. Epub 2019 Apr 3.
10
Clinical and functional relevance of melanocortin-4 receptor variants in obese German children.
Horm Res Paediatr. 2012;78(4):237-46. doi: 10.1159/000343816. Epub 2012 Nov 6.
引用本文的文献
1
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.
Nat Genet. 2024 Sep;56(9):1772-1779. doi: 10.1038/s41588-024-01842-3. Epub 2024 Jul 29.
2
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3.
3
Array genotyping as diagnostic approach in medical genetics.
Mol Genet Genomic Med. 2022 Sep;10(9):e2016. doi: 10.1002/mgg3.2016. Epub 2022 Aug 1.
4
Islet MC4R Regulates PC1/3 to Improve Insulin Secretion in T2DM Mice via the cAMP and β-arrestin-1 Pathways.
Appl Biochem Biotechnol. 2022 Dec;194(12):6164-6178. doi: 10.1007/s12010-022-04089-y. Epub 2022 Jul 28.
本文引用的文献
1
Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.
BMJ. 2021 Feb 15;372:n214. doi: 10.1136/bmj.n214.
2
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Cell. 2019 Apr 18;177(3):597-607.e9. doi: 10.1016/j.cell.2019.03.044.
3
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18.
Zotero 插件