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Overall Endometriosis GWAS Meta‐Analysis Results: 44 GWS Loci 32 Novel variants, Rahmioglu et al., BioRxiv 406967
Unpublished GWAS results will be presented but slides cannot be provided for these.
Genetic Variation germ-line (heritable) vs. somatic
Germ-line
Somatic
Origin: transmission from parents (+ de novo at conception)
Typically present in every cell (Exception: ‘mosaicism’)
Constitutes ‘heritability’ of traits and diseases
Origin: mutation event in DNA of a single cell
Present in selected cells; in tissues through clonal expansion
Basis for most cancers
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PRECONGRESS COURSE 03 I VIENNA, AUSTRIA – 23 JUNE 2019 93
