{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2000, ILLUMINA"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000225"],"host":["EGA"],"description":["EGA study EGAS00001000225"],"dataset_title":["UK10K_NEURO_GURLING REL-2012-07-05","UK10K_NEURO_GURLING REL-2012-11-27","UK10K_NEURO_GURLING REL-2013-04-20"],"category":["restricted"],"repository":["EGA"],"description_synonyms":["Networks, RING dermoid of cornea, IPP2A2, Antemortem Diagnosis, Disorders, Bipolar Mood Disorders, Kinship, Activity, Laboratory, instrument configuration, Bipolar Disorders, protein, Diagnosis, manic depressive disorder, Adiposis, Disorders Usually Diagnosed in Infancy, Status, 5730420M11Rik, manic depression, Obese, protein polypeptide chains, Techniques, unspecified, Dementia Praecox, diseases, Method, Bipolar Disorder Type 2, Bipolar Disorder Type 1, Mood Disorder, chronic state, symptoms, unspecified state, Life Cycle, Family Life Cycle., diseases and disorders, AW048865, Research Activity, protein aggregate, Unspecified schizophrenia, Laboratory Research, Priorities, SET, SCHIZOPHRENIA NEC-UNSPEC, human disease, thymus nucleic acid, Unspecified schizophrenia (disorder), Kinship Network, Genomes, TAF-I, RDC, Schizophrenic disorders, HardwareType, proteins, procedures, genetic, DmelCG4299, IGAAD, set, Methodological Studies, DmelCG10574, Conserved, sample, Homo sapiens disease, Bipolar Mood, Manic-depressive illness, Bipolar Disorder, Double-Stranded DNA, Mental Disorders, deoxyribonucleic acids, Research Priority, DNAn, Family Life Cycles, Diagnose, infrequent, SCHIZO NOS-SUBCHR/EXACER, close to, phapii, screening, Child Mental Disorder, Child Mental, wide/broad, Manic-Depressive, Step Parents, frequency, familial, StF-IT-1, Research Priorities, Psychoses, Manic Depression, Double-Stranded, Procedure, Manic Depressive Psychosis, Stepparent, Diagnoses, 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Schizophrenic disorders (disorder), Protein, Dm I-2, I2PP2A, SCHIZOPHRENIA NEC-CHR, Research Activities, sequence, condition, Step-Parent, rare (European definition), techniques, ds-DNA, subchronic state with acute exacerbation, bipolar disorder manic phase, outbreaks, obesity disorder, Obesity (disorder), Manic, Manic depression, ensemble, Schizophrenic, Manic-Depressive Psychosis, Obesity NOS, Bipolar, Schizophrenia NOS (disorder), mixed bipolar disorder, TRAITS, primary structure of sequence macromolecule, endemics, sample population, Protein Gene Products, in remission, Gene Proteins, Genogroups, dSET/TAF-Ibeta, Manic Depressive, 2610030F17Rik, approaches, Families, vicinity of, cardinality, Desoxyribonukleinsaeure, Mental Disorders Usually Diagnosed in Infancy, carrier, epidemics, SCHIZOPHRENIA NOS-UNSPEC, AA407739, hereditary, Relatives, Bipolar Mood Disorder, methodology"],"name_synonyms":["poxn, Pox-n, PoxN, DmelCG8246, pox-n, P4, neuro, CG8246."],"additional_accession":[]},"is_claimable":false,"name":"UK10K NEURO GURLING","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\nThis sample set consists of DNA from multiply affected schizophrenia families. The families have been diagnosed using the SADS-L clinical instrument which gives diagnoses at the probable level of the research diagnostic criteria (RDC). In addition all diagnoses are available using DSMIIIR criteria. These criteria are widely accepted as being valid and reliable for the diagnosis of schizophrenia. All families have been collected to ensure that they are uni-lineal for transmission of schizophrenia, i.e. they have only one affected parent with schizophrenia, or a relative of only one transmitting or obligate carrier parent with schizophrenia. Families with bi-lineal transmission of schizophrenia (i.e. with both parents being affected) were not sampled for this study. All families have multiple cases of schizophrenia and related disorders. The families have been selected to ensure there are no cases of bipolar disorder within them and that they do not contain bipolar disorder in any relatives on either side of the family.For further information on this cohort please contact Hugh Gurling (h.gurling@ucl.ac.uk).","dates":{"updated":"2021-04-23 20:10:07"},"accession":"EGAS00001000225","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000319","EGAD00001000440","EGAD00001000237","EGAC00001000205"]}}