Mosaic loss of chromosome Y in leukocytes matters

[...] mixing the samples collected from blood and buccal mucosa would tend to dilute an association caused by LOY in leukocytes, resulting in loss of statistical power and false-negative results. Inclusion of all experiments from the EADI1 cohort would have resulted in a high level of false-positive...

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Veröffentlicht in:Nature genetics 2019-01, Vol.51 (1), p.4-7
Hauptverfasser: Forsberg, Lars A., Halvardson, Jonatan, Rychlicka-Buniowska, Edyta, Danielsson, Marcus, Moghadam, Behrooz Torabi, Mattisson, Jonas, Rasi, Chiara, Davies, Hanna, Lind, Lars, Giedraitis, Vilmantas, Lannfelt, Lars, Kilander, Lena, Ingelsson, Martin, Dumanski, Jan P.
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Sprache:eng
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Zusammenfassung:[...] mixing the samples collected from blood and buccal mucosa would tend to dilute an association caused by LOY in leukocytes, resulting in loss of statistical power and false-negative results. Inclusion of all experiments from the EADI1 cohort would have resulted in a high level of false-positive LOY calls (Supplementary Fig. 2 in ref. 3). [...]it is likely that samples with poor genotyping quality, leading to false LOY calls, were included in the dataset published by Zhou et al.10, possibly influencing results from their statistical analyses. [...]the work described in Zhou et al.10 has substantial weaknesses that may explain the partly deviating results between that paper and Forsberg et al.1. [...]a continuous estimate of LOY mosaicism should be used as the response variable in primary statistical analyses.
ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/s41588-018-0267-9