EGAGenomicsIllumina HiSeq 2000Otherhttps://ega-archive.org/studies/EGAS00001000120EGAEGA study EGAS00001000120UK10K_NEURO_IMGSAC REL-2012-07-05UK10K_NEURO_IMGSAC REL-2012-11-27UK10K_NEURO_IMGSAC REL-2013-04-20restrictedEGApoxn, Pox-n, PoxN, DmelCG8246, pox-n, P4, neuro, CG8246.telecanthus-hypospadias syndrome, DmelCG6147, Networks, type 2, 10E, Disorders, Kinship, FRAXA Syndromes, 15-tetramethyl-2, mental retardation, protein, Adiposis, Disorders Usually Diagnosed in Infancy, 10, 11, 12, FRAX, Obese, Techniques, adenoma sebaceum syndrome, unspecified, diseases, Method, Fragile X Syndromes, Tsc22, Life Cycle, diseases and disorders, AW048865, Opitz-Frias syndrome, 4, Karyotype Analysis, 6, PAST, protein aggregate, 8, Family Life Cycle, 12E, human disease, Tuberous Sclerosis, Kinship Network, Genomes, procedures, Autistic Spectrum Disorder, 14-hexadecaheptaenedioic acid, FRAXA Syndrome, AA589566, genetic, Egr5, Autism Spectrum Disorders, Methodological Studies, Conserved, sample, X Linked Mental Retardation and Macroorchidism, trans sodium crocetinate, Homo sapiens disease, HPAST1, Mental Disorders, Family Life Cycles, chromosome 22Q11.2 deletion syndrome, (2E, infrequent, Marker X, close to, Child Mental Disorder, Child Mental, wide/broad, primary ovarian insufficiency, Tescalcin, frequency, Opitz-G syndrome, familial, 4E, hypospadias-dysphagia syndrome, FRAXE Syndromes, Procedure, Martin-Bell Syndrome, marker 10 syndrome, FRAXA, X-linked mental retardation and macroorchidism, FRAXE, transcrocetin, Diseases, Obesity [Ambiguous], Obese (finding), crocetin, OBESITY, CG6147, Neurodevelopmental Disorders Usually Diagnosed in Infancy, Karyotype Analysis Method, X-Linked Mental Retardation and Macroorchidism, Filiation, Karyotype Analysis Methods, NCCT, X-Linked, hypertelorism-hypospadias syndrome, Child Mental Disorders, Martin-Bell, Autistic behaviors, 6E, Exomes, Adiposity, fragile 10 intellectual disability syndrome, whole genome, Methodological, dTsc1, Marker X Syndromes, PAST1, dTSC1, surveillance, Methodological Study, Children, tsc1, morbidity, associated with Marxq28, FRAXE Syndrome, Phenotypes, crocetin sodium salt, Life Cycles, disease, Neurodevelopmental, type II, wide, fragile 10 premature ovarian failure, fra(X) syndrome, Syndromes, X-linked intellectual disability and macroorchidism, atypical autism, Festa, dTSC, inherited genetic, Tgfb1i4, neurodevelopmental disorder, hypertelorism with esophageal Abnormality and hypospadias, fragile 10 mental retardation syndrome, Mental Disorder, other disease, whole exome, Autistic Spectrum, Family Member, X-linked, Procedures, FESTA-L, H-PAST, FESTA-S, Neurodevelopmental Disorder, 8E, low frequency, TSC-22, dTSC-1, number, obesity disease, Gene, CHP3, Network, broad, adenoma sebaceum, protein-containing complex, presence, autosomal dominant, Child, Obesity, Childhood or Adolescence, Conserved Sequences, Fragile X tremor/ataxia syndrome, TSC1, BBB syndrome, Mar (X) Syndrome, NCC, Gene Products, Studies, GBBB2, disease or disorder, Trait, Technique, AW105905, U19, intellectual disability, Karyotypings, BM040, Associated With Marxq28, FOCUS, Mental Disorders Diagnosed in Childhood, Mental Retardation, occurrence, Research, Having too much body fat, prevalence, study., 14E)-2, Overweight and obesity, Fra(X) Syndrome, Genotypes, non-neoplastic, Study, Disorder, Syndrome, disorder, Kinship Networks, Opitz oculogenitolaryngeal syndrome, constitutitional genetic, LAM, Family, Fragile X Mental Retardation Syndrome, Neurodevelopmental Disorders, incidence, Fragile X, Analysis Method, AI035291, Family Research, protein complex, Autistic behaviours, Traits, Proteins, disorders, medical condition, obesity, near to, Family Members, Sequences, count in organism, Tsc, TSC, native protein, Genogroup, Marker X Syndrome, Sequence, GBBB syndrome, Protein, Associated With Fragile Site Fraxe, Autism spectrum disorders, transcrocetinate sodium, sequence, condition, rare (European definition), Opitz GBBB syndrome, techniques, fragile 10 syndrome, outbreaks, G syndrome, obesity disorder, Obesity (disorder), fragile X-associated, Karyotype, Methods, FXS, Fragile X-F Mental Retardation Syndrome, Martin Bell Syndrome, rocky, Obesity NOS, TRAITS, primary structure of sequence macromolecule, endemics, sample population, Autistic Spectrum Disorders, Protein Gene Products, Gene Proteins, Genogroups, Analysis Methods, approaches, Families, vicinity of, cardinality, Autism spectrum disorder, Opitz Bbbg syndrome, Mental Disorders Usually Diagnosed in Infancy, TE-1, epidemics, TSC cpd, hereditary, telecanthus with associated abnormalities, Relatives, Opitz phenotype, methodologyfalseUK10K NEURO IMGSACIn 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. The IMGSAC cohort is an international collection of families containing children ascertained for ASDs (autism spectrum disorders). The affected individuals are have been phenotyped, including using the ADI-R and ADOS instruments. Individuals with a past or current medical disorder of probable etiological significance or TSC have been excluded. Where possible, karyotyping has been performed on one affected individual per family to exclude Fragile X syndrome. Many of the samples have been genotyped, using the Affymetrix 10k and Illumina 1M platforms. All samples to be included in the current study are of UK origin.For further information on this cohort please contact Jeremy Parr (jeremy.parr@newcastle.ac.uk).2021-04-23 20:10:07EGAS000010001209606EGAD00001000239EGAD00001000320EGAD00001000441EGAC00001000205