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Fig. 1 | Cell & Bioscience

Fig. 1

From: Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank

Fig. 1

Manhattan plots of incident disease diagnoses and mCA in UKBB organized by disease category/anatomical location. All models are adjusting for age, age2, detailed 25-level smoking, and sex (only for autosomal mCA analyses). Upward closed triangles represent diseases with positive associations while downward open triangles represent diseases with negative associations. Colors are used to separate diseases in different ICD-10 phenotype blocks. The red line represents the PheWAS significance level (Bonferroni correction: 0.05/number of diseases tested) and the blue dashed line represents the suggestive threshold (1/number of diseases tested). A maximum of the ten most significant medication codes above the suggestive threshold are labeled. PheWAS results are for: a Autosomal mCAs, 1290 diseases tested (PheWAS significance level: 3.88 × 10–5, suggestive line: 7.75 × 10–4); C91 Lymphoid leukaemia, C92 Myeloid leukaemia, C85 Other and unspecified types of non-Hodgkin's lymphoma, C83 Diffuse non-Hodgkin's lymphoma, D47 Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue, D45 Polycythaemia vera, D69 Purpura and other haemorrhagic conditions, D46 Myelodysplastic syndromes, D70 Agranulocytosis, and R16 Hepatomegaly and splenomegaly, not elsewhere classified. b mLOX, 1,128 diseases tested (PheWAS significance level: 4.43 × 10–5, suggestive line: 8.87 × 10–4); C91 Lymphoid leukaemia, C83 Diffuse non-Hodgkin's lymphoma, J03 Acute tonsillitis, and M48 Other spondylopathies. c mLOY, 1140 diseases tested (PheWAS significance level: 4.39 × 10–5, suggestive line: 8.77 × 10–4); E11: Non-insulin-dependent diabetes mellitus, E14: Unspecified diabetes mellitus, E16: Other disorders of pancreatic internal secretion, E66: Obesity, H36: Retinal disorders in diseases classified elsewhere, I10: Essential (primary) hypertension, G63: Polyneuropathy in diseases classified elsewhere, L03: Cellulitis, M10: Gout, and N17: Acute renal failure

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