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
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本文引用的文献
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Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.使用 SNP 芯片检测罕见的致病性变异：回顾性、基于人群的诊断评估。
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.人类功能获得性 MC4R 变体显示信号转导偏向并预防肥胖。
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.在人群环境中评估疑似致病变异的致病性、外显率和表现度。
Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18.
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