Abstracts from the 51st European Society of Human Genetics Conference: Posters

Results: The study found that in the blood of healthy women there is a physiological low-level mosaicism with a clear trend in increased proportion of abnormal cells associated with the increasing age to 1.83%, 2.23% and 5.88% for groups 1, 2 and 3, respectively (P= 0.0042).

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In one family, two SNPs alone almost reached significance at the MEIS and BTBD9 locus after correcting for multiple testing of SNPs and families.

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Results: We find four highly significant associations (FDR<0.05) with knee joint pain on different taxonomic levels (Class-Order-Family-Genus) leading to the bacterial genus of Streptococcus (FDR= 1.96E-05,).

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We did not observe evidence for association with the NCF1 CN nor with the functional variant in carriers of the most frequent CN ratio (4 pseudogenes : 2 gene copies) despite 97% power to detect nominally significant association with PsA or PsV with c.269G>A/p.Arg90His.

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