{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2000"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000121"],"host":["EGA"],"description":["EGA study EGAS00001000121"],"dataset_title":["UK10K_NEURO_IOP_COLLIER REL-2012-07-05","UK10K_NEURO_IOP_COLLIER REL-2013-04-20","UK10K_NEURO_IOP_COLLIER REL-2012-11-27"],"category":["restricted"],"repository":["EGA"],"name_synonyms":["poxn, Pox-n, PoxN, DmelCG8246, pox-n, P4, neuro, CG8246."],"description_synonyms":["type 1, rasGAP, Disorders, Schizophreniform Disorders, muriate of potash, 10538, CG4832, Risk Factor Score, GAP1, 5730420M11Rik, Chemical Shift Imagings, Memory for Designs Test, unspecified, Risk Factors, Dementia Praecox, Method, gap1, responsivity, chronic state, symptoms, Magnetic Resonance Imaging, unspecified state, Neuropsychologic Test, Chemical, globe, Fs(3)Hor, FBgn 32821, Correlates, SET, thymus nucleic acid, 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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\nThe Genetics and Psychosis (GAP) set consists of samples from subjects with schizophrenia, ascertained as a new-onset sample. This set is of UK origin, with data on cognition, brain imaging and other endophenotypes. \n\nThe Maudsley twin series consists of probands ascertained from the Maudsley Twin Register, defined as patients of multiple birth who had suffered psychotic symptoms. This set is of UK origin, with data on cognition, brain imaging and other endophenotypes, with DNA available from an MZ or DZ affected or unaffected co-twin. \n\nThe Maudsley family study (MFS) consists of over 250 families who have a history of schizophrenia or bipolar disorder Within the Maudsley Family Study, biological markers of psychosis include neuropsychological tests, Evoked Response Potentials Tests (ERPs), MRI scans, dermatoglyphics and eye tracking. Early risk factors for psychosis and clinical symptoms are also investigated.  This set is of UK origin, with DNA available from both affected and unaffected relatives in many of the probands. For further information on this study please contact David Collier (david.collier@kcl.ac.uk).","dates":{"updated":"2021-04-23 20:10:07"},"accession":"EGAS00001000121","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000321","EGAD00001000235","EGAD00001000442","EGAC00001000205"]}}