{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina Genome Analyzer II, Illumina HiSeq 2000"],"study_type":["Exome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000131"],"host":["EGA"],"description":["EGA study EGAS00001000131"],"dataset_title":["UK10K_RARE_THYROID REL-2012-01-13","UK10K_RARE_THYROID REL-2012-02-22","UK10K_RARE_THYWG REL-2013-03-06","UK10K_RARE_THYROID REL-2012-07-05","UK10K_RARE_THYROID REL-2012-11-27","UK10K_RARE_THYROID REL-2013-04-20"],"category":["restricted"],"repository":["EGA"],"name_synonyms":["thyroid, rare (European definition), Glands, THYROID, glandula thyroidea, Thyroids, Thyroid Glands, Gland, Thyroid., Thyroid"],"description_synonyms":["l(4)16, camKII, Disorders, Materials, CALML2, DD132, calm1, protein, Adiposis, Disorders Usually Diagnosed in Infancy, Thyroid, Obese, thyroid hormone responsiveness defect, Techniques, unspecified, congenital goiter, diseases, Method, Fetal Iodine Deficiency Disorder, diseases and disorders, AW048865, Cal49A, l(4)ar, protein aggregate, DmelCG18069, human disease, CDPK1, RTH, Genomes, Hormone Receptor, Tissue, AI327027, congenital goitre, procedures, elevated, l(4)102EFb, endocrine, genetic, Calm, CAMI, dyshormonogenesis, Methodological Studies, CAMC, Conserved, sample, familial thyroid dyshormonogenesis, CaM kinase, C2orf34, Cretinism, Homo sapiens disease, Mental Disorders, CPVT4, Cam1, infrequent, Thyroid dyshormonogenesis, close to, DmCalm, dCaM, Child Mental Disorder, Child Mental, wide/broad, Hormones, CaM KII, frequency, CAMKII, familial, Receptor Agonists, Procedure, CaM II, Congenital, thyroid dyshormonogenesis, Diseases, Obesity [Ambiguous], Obese (finding), OBESITY, Genetic Materials, simple tissue, Neurodevelopmental Disorders Usually Diagnosed in Infancy, Genetic Material, thyroid hormone resistance syndrome, CLNMT, resistance to thyroid stimulating hormone, CAMKIId, Child Mental Disorders, Exomes, Adiposity, INSDC_feature:gene, whole genome, Methodological, surveillance, Methodological Study, morbidity, Phenotypes, disease, Neurodevelopmental, wide, Patient, Material, Festa, Cistron, inherited genetic, neurodevelopmental disorder, 3909, Mental Disorder, dysgenesis, other disease, whole exome, CaMK II, congenital hypothyroidism not due to iodine deficiency, Procedures, FESTA-L, FESTA-S, Neurodevelopmental Disorder, low frequency, number, obesity disease, Gene, CAMIII, broad, protein-containing complex, presence, Child, Myxedema, Hormone, Obesity, Childhood or Adolescence, Conserved Sequences, foetal iodine deficiency syndrome, AL024000, Gene Products, Studies, disease or disorder, KMT, l(2)03909, CaM KMT, Agonists, Trait, Technique, U19, fetal iodine deficiency syndrome, CamKII, BM040, hormones, l(2)3909, FOCUS, Mental Disorders Diagnosed in Childhood, Genetic, occurrence, Having too much body fat, prevalence, D-CaM, Hormone Receptor Agonists, Overweight and obesity, Genotypes, non-neoplastic, Study, Camkii, Clients, CG8472, Disorder, disorder, PHKD, thyroid hormones, constitutitional genetic, AI256814, Neurodevelopmental Disorders, high elevation, incidence, infantile hypothyroidism, protein complex, Traits, Endemic, CaM, Proteins, disorders, Thyroid Hormone, CAMKIIalpha, medical condition, Cistrons, Client, Smp1, obesity, dCaMKII, near to, Sequences, count in organism, calcium/calmodulin-dependent protein kinase II, native protein, Genogroup, Sequence, AI461935, Hypothyroidism, RTE1-homolog, DCK, Protein, Cam, caM, CAM, Calcium/calmodulin-dependent protein kinase, Cal, sequence, condition, 3200001F09Rik, rare (European definition), techniques, background, thyroid hormone resistance, outbreaks, obesity disorder, Obesity (disorder), CG18069, DmelCG8472, CamKIIalpha, cam, Obesity NOS, Ca2+/calmodulin-dependent protein kinase II., CaMK-II, TRAITS, primary structure of sequence macromolecule, endemics, sample population, introduction, cretinism, Protein Gene Products, generalized thyroid hormone resistance, Gene Proteins, Genogroups, resistance to thyrotropin, approaches, vicinity of, cardinality, Mental Disorders Usually Diagnosed in Infancy, epidemics, TSH resistance, variable, hereditary, CCM1, anon-EST:Posey59, methodology, Endemic Cretinism"],"additional_accession":[]},"is_claimable":false,"name":"UK10K RARE THYROID","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\nTwo cohorts of subjects are being analysed: Individuals with Congenital Hypothyroidism (CH) due either to dysgenesis or dyshormonogenesis; Patients with Resistance to Thyroid hormone (RTH), a disorder characterized by elevated thyroid hormones and variable tissue refractoriness to hormone action. The CH cohort has been enriched for genetic aetiologies by recruiting cases that are familial, on a consanguineous background or syndromic. The RTH cohort consists of cases in which candidate gene analyses have been negative.For further information with regard to this cohort please contact Krishna Chatterjee (kkc1@medschl.cam.ac.uk).","dates":{"updated":"2021-04-23 20:10:07"},"accession":"EGAS00001000131","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000208","EGAD00001000420","EGAD00001000805","EGAD00001000329","EGAD00001000187","EGAD00001000152","EGAC00001000205"]}}