{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2000, Illumina Genome Analyzer II"],"study_type":["Exome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000129"],"host":["EGA"],"description":["EGA study EGAS00001000129"],"dataset_title":["UK10K_RARE_HYPERCHOL REL-2012-07-05","UK10K_RARE_HYPERCHOL REL-2012-02-22","UK10K_RARE_HYPERCHOL REL-2012-01-13","UK10K_RARE_HYPERCHOL REL-2012-11-27","UK10K_RARE_HYPERCHOL REL-2013-04-20"],"category":["restricted"],"repository":["EGA"],"name_synonyms":["rare (European definition)."],"description_synonyms":["\"Fredrickson type IIa hyperlipoproteinemia\" EXACT [MTHICD9_2006:272.0], Familial Defective, Disorders, arteries, LDL Receptor Disorder, Type IIa, Essential Hypercholesterolemia, Hlb301, Autosomal Dominant Hypercholesterolemia, apob-100, protein, Dominant Hypercholesterolemias, Adiposis, Disorders Usually Diagnosed in Infancy, Mutations, 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hypercholesteremia\" EXACT [CSP2005:1849-4634], Hyperlipoproteinemia, Familial Hypercholesterolemic Xanthomatoses, occurrence, apob-48, Having too much body fat, Hyperlipoproteinemias, prevalence, Hyper-Low Density Lipoproteinemias, Overweight and obesity, Hyperlipoproteinemia Type IIs, arterial subtree, Genotypes, non-neoplastic, Study, Autosomal Dominant Hypercholesterolemias, Type II Hyperlipoproteinemia, Clients, Disorder, Dm CG33087, disorder, Hypercholesterolemic Xanthomatosis, Hyper-Low-Density-Lipoproteinemias, Apoprotein (B), Hyper-Low-Density-Lipoproteinemia, LDL Receptor Disorders, constitutitional genetic, Apoproteins B, Neurodevelopmental Disorders, incidence, CG12654, DmelCG33087, protein complex, Essential, Traits, Proteins, disorders, medical condition, Hyperbetalipoproteinemias, \"familial hypercholesterolemia (disorder)\" EXACT [SNOMEDCT_2005_07_31:31654005], Hyper-Low Density, Client, obesity, near to, Xanthomatosis, Sequences, Familial Combined 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CG8706"],"additional_accession":[]},"is_claimable":false,"name":"UK10K RARE HYPERCHOL","description":"In the UK10K project we propose a series of complementary genetic approaches to find new low frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts (at 6x sequence coverage), and the exome sequence (protein coding regions and related conserved sequence) of 6000 samples selected for extreme phenotypes. Our studies will focus primarily on cardiovascular-related quantitative traits, obesity and related metabolic traits, neurodevelopmental disorders and a limited number of extreme clinical phenotypes that will provide proof-of-concept for future familial trait sequencing. We will analyse directly quantitative traits in the cohorts and the selected traits in the extreme samples, and also use imputation down to 0.1% allele frequency to extend the analyses to further sample sets with genome wide genotype data. In each case we will investigate indels and larger structural variants as well as SNPs, and use statistical methods that combine rare variants in a locus or pathway as well as single-variant approaches.\n\nFamilial Hypercholesterolemia is a condition where the affected person has a consistently high level of LDL which can lead to early clogging of the coronary arteries. All patients selected for this study will have been found not to carry the common APOB and PCSK9 mutations, and to have no detectable LDLR mutations by testing for 18 common mutations. For further information with regard to this cohort please contact Steve Humphries(steve.humphries@ucl.ac.uk).","dates":{"updated":"2021-04-23 20:10:07"},"accession":"EGAS00001000129","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000295","EGAD00001000167","EGAD00001000186","EGAD00001000417","EGAD00001000207","EGAC00001000205"]}}