Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

Study ID Alternative Stable ID Type
phs000538 Family

Study Description

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease.

Archive Link Archive Accession
dbGaP phs000538

Who archives the data?

There are no publications available