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 Weedon¹, Caroline F Wright², Kashyap A Patel², Timothy M Frayling³

Affiliations

¹ 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. Electronic address: m.n.weedon@exeter.ac.uk.
² 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.
³ 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. Electronic address: t.m.frayling@exeter.ac.uk.

PMID: 33798434
PMCID: PMC7611986
DOI: 10.1016/j.cell.2021.03.015

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. 2021.

. 2021 Apr 1;184(7):1651.

doi: 10.1016/j.cell.2021.03.015.

Authors

Michael N Weedon¹, Caroline F Wright², Kashyap A Patel², Timothy M Frayling³

Affiliations

¹ 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. Electronic address: m.n.weedon@exeter.ac.uk.
² 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.
³ 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. Electronic address: t.m.frayling@exeter.ac.uk.

PMID: 33798434
PMCID: PMC7611986
DOI: 10.1016/j.cell.2021.03.015

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Reply to Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Lotta L, Langenberg C, Wareham NJ, Farooqi IS. Lotta L, et al. Cell. 2021 Apr 1;184(7):1652-1653. doi: 10.1016/j.cell.2021.03.014. Cell. 2021. PMID: 33798435 No abstract available.

Comment on

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.

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

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

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