Closed joerivandervelde closed 4 years ago
The biological sex of a patient might not necessarily be the correct genetic sex. At a sample level, we can introduce 'Genotyped sex' to discover mistakes, sample mix-ups, non-obvious sexes (e.g. X0, XXY, XXYY), etc.
these notation rules might be useful https://www.coriell.org/0/Sections/Support/Global/iscn_help.aspx?PgId=263
The biological sex of a patient might not necessarily be the correct genetic sex. At a sample level, we can introduce 'Genotyped sex' to discover mistakes, sample mix-ups, non-obvious sexes (e.g. X0, XXY, XXYY), etc.