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Comment
. 2021 Apr 1;184(7):1651.
doi: 10.1016/j.cell.2021.03.015.

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R

Michael N Weedon  1 , Caroline F Wright  2 , Kashyap A Patel  2 , Timothy M Frayling  3
Affiliations
Comment

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R

Michael N Weedon et al. Cell. .
No abstract available

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  • Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
    Lotta LA, Mokrosiński J, Mendes de Oliveira E, Li C, Sharp SJ, Luan J, Brouwers B, Ayinampudi V, Bowker N, Kerrison N, Kaimakis V, Hoult D, Stewart ID, Wheeler E, Day FR, Perry JRB, Langenberg C, Wareham NJ, Farooqi IS. Lotta LA, et al. Cell. 2019 Apr 18;177(3):597-607.e9. doi: 10.1016/j.cell.2019.03.044. Cell. 2019. PMID: 31002796 Free PMC article.

References

    1. Lotta LA, Mokrosinski J, Mendes de Oliveira E, Li C, Sharp SJ, Luan J, Brouwers B, Ayinampudi V, Bowker N, Kerrison N, et al. Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity. Cell. 2019;177:597–607.:e599. - PMC - PubMed
    1. Weedon MN, Jackson L, Harrison JW, Ruth KS, Tyrrell J, Hattersley AT, Wright CF. Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation. BMJ. 2021;372:n214. - PMC - PubMed
    1. Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, et al. Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. Am J Hum Genet. 2019;104:275–286. - PMC - PubMed

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