Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R
Author:
Publisher
Elsevier BV
Subject
General Biochemistry, Genetics and Molecular Biology
Reference3 articles.
1. Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity;Lotta;Cell,2019
2. Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation;Weedon;BMJ,2021
3. Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting;Wright;Am. J. Hum. Genet.,2019
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