EGAGenomicsIllumina HiSeq 2000Exome Sequencinghttps://ega-archive.org/studies/EGAS00001000110EGAEGA study EGAS00001000110UK10K_NEURO_ASD_FI REL-2012-01-13UK10K_NEURO_ASD_FI REL-2013-04-20UK10K_NEURO_ASD_FI REL-2012-07-05UK10K_NEURO_ASD_FI REL-2012-11-27restrictedEGAALCOHOL DEHYDROGENASE, TAPETUM 1, Gus, TA1, AI747421, Gur, Gut, g, TAPETUM1, 3.1.6.-., Autistic behaviours, Autistic behaviors, Autism spectrum disorder, interatrial communication, Autism spectrum disorders, ASD, Gus-u, Gus-t, asd, Gus-s, Gus-r, Atrial septal defectForms, TAPETUM 1, ICD-11, ICD-10, Antemortem Diagnosis, Disorders, ICD-10 Procedure Coding System., International Statistical Classification of Diseases and Related Health Problems, autism (disease), acetylglucosaminyltransferase-like protein, Åland Islands, Kanner's Syndrome, Mbp1, ICD-9-CM, protein, Risk Factor Score, Diagnosis, Asperger's Disorder, Adiposis, Disorders Usually Diagnosed in Infancy, Obese, Techniques, unspecified, Risk Factors, diseases, Method, Aspergers Disorder, Code, childhood autism, symptoms, diseases and disorders, AW048865, "Autistic disorder (disorder)" EXACT [SNOMEDCT_2005_07_31:38763009], Asperger's Syndrome, protein aggregate, infantile autism, myd, "Kanner's syndrome" EXACT [MTHICD9_2006:299.0], Correlates, Autisms, Asperger Diseases, human disease, like-acetylglucosaminyltransferase, Genomes, Early Infantile Autism, ASD, Mbp-1, procedures, Autistic Spectrum Disorder, "childhood autism" EXACT [SNOMEDCT_2005_07_31:191688000], genetic, Social, Autism Spectrum Disorders, g, Methodological Studies, Health Correlates, ICD, Conserved, sample, Autism, "Autistic disorder (disorder)" EXACT [SNOMEDCT_2005_07_31:408856003], Homo sapiens disease, asd, Mental Disorders, Asperger Disorders, Diagnose, infrequent, close to, screening, Child Mental Disorder, Child Mental, wide/broad, Disease International Classifications, gyltl1b-b, frequency, familial, Infantile, Procedure, 3.1.6.-, "childhood autism" EXACT [SNOMEDCT_2005_07_31:154878007], Diagnoses, Autistic Disorder, Postmortem, Screenings, "childhood autism" EXACT [SNOMEDCT_2005_07_31:192581001], MDDGA6, Examinations and Diagnoses, "Kanner's syndrome" EXACT [CSP2005:2484-9506], mKIAA0609, Diseases, Obesity [Ambiguous], Obese (finding), "autism" EXACT [CSP2005:2483-6241], OBESITY, Score, "Infantile psychosis (disorder)" EXACT [SNOMEDCT_2005_07_31:408858002], University, Asperger Disorder, Neurodevelopmental Disorders Usually Diagnosed in Infancy, Postmortem Diagnosis, International Classification of Disease Codes, Early, KIAA0609, acetylglucosaminyltransferase-like 1A, Diagnoses and Examination, fg, Postmortem Diagnoses, AI747421, gyltl1b, Factors, Child Mental Disorders, Social Risk Factors, Risk, Autistic behaviors, susceptibility to, mdc1d, Exomes, signs, Adiposity, whole genome, Methodological, surveillance, Methodological Study, LARGE_HUMAN, morbidity, Phenotypes, disease, Neurodevelopmental, MDC1D, Social Risk, wide, Health, enr, atypical autism, Festa, Autistic disorder of childhood onset (disorder), inherited genetic, neurodevelopmental disorder, "Autistic disorder of childhood onset (disorder)" EXACT [SNOMEDCT_2005_07_31:43614003], Mental Disorder, ALCOHOL DEHYDROGENASE, Asperger's Disease, other disease, whole exome, Autistic Spectrum, Procedures, FESTA-L, FESTA-S, Neurodevelopmental Disorder, low frequency, number, obesity disease, Gene, broad, protein-containing complex, presence, LARGE1, Child, froggy, Gyltl1a, Obesity, Childhood or Adolescence, Gus, Gur, "Autistic disorder" EXACT [ICD9CM_2006:299.0], Gut, Conserved Sequences, TAPETUM1, Infantile autism (disorder), "Infantile autism (disorder)" EXACT [SNOMEDCT_2005_07_31:408857007], Infantile Autism, Gene Products, Studies, Mass, disease or disorder, Screening, Early Infantile, Antemortem, susceptiblity to, Trait, Technique, Aland Islands, U19, Risk Factor, Kanner Syndrome, Aspergers Disease, BM040, FOCUS, Mental Disorders Diagnosed in Childhood, Populations at Risk, occurrence, MDDGB6, Having too much body fat, prevalence, Risk Score, LARGE, Overweight and obesity, Atrial septal defect, Diagnoses and Examinations, Genotypes, Population at Risk, non-neoplastic, ICD Code, Study, BPFD#36, TA1, Kanner's, Disease International Classification, "Infantile autism NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:191691000], Disorder, Syndrome, Social Risk Factor, disorder, constitutitional genetic, Neurodevelopmental Disorders, incidence, "childhood autism [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:271450003], Asperger's Diseases, Antemortem Diagnoses, Disease, findings, protein complex, Autistic behaviours, Traits, Proteins, disorders, Asperger, medical condition, Factor, ICD-10-CM, Hospital, Risk Factor Scores, autism spectrum disorder, Examination and Diagnoses, obesity, near to, Sequences, count in organism, native protein, Genogroup, Sequence, Mass Screenings, Protein, ICD 10 Procedure Coding System, ICD-10-PCS, Autism spectrum disorders, Kanners Syndrome, sequence, condition, ICD-9, Infantile psychosis (disorder), rare (European definition), techniques, outbreaks, obesity disorder, Obesity (disorder), asperger syndrome, Asperger Disease, autistic disorder, ICD Codes, International Classification of Disease, Obesity NOS, Kanner's syndrome, Autistic, Gus-u, Gus-t, Gus-s, Gus-r, TRAITS, primary structure of sequence macromolecule, endemics, sample population, Autistic Spectrum Disorders, Risk Scores, Protein Gene Products, Gene Proteins, Codes, Genogroups, Aspergers Syndrome, like-glycosyltransferase, autistic disorder of childhood onset, approaches, vicinity of, cardinality, autism, Autism spectrum disorder, interatrial communication, Mental Disorders Usually Diagnosed in Infancy, epidemics, Asperger's, hereditary, methodology, glycosyltransferase-like protein LARGE1falseUK10K NEURO ASD FIIn 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. These samples are a subset of a nationwide collection of Finnish autism spectrum disorder (ASD) samples. The samples have been collected from Central Hospitals across Finland in collaboration with the University of Helsinki. The samples consist of 93 individuals with a diagnosis of autistic disorder or Asperger syndrome from 36 families with at least two affected individuals. Of these individuals, 16 can be genealogically connected to form two large pedigrees originating from Central Finland, suggesting possible genetic risk factors shared identical by descent within the pedigrees. All diagnoses are based on ICD-10 and DSM-IV diagnostic criteria for ASDs. Additional phenotypic data is available for a subset of the individuals.For further information with regard to this cohort please contact Aarno Palotie (Aarno.palotie@helsinki.fi).2021-04-23 20:10:07EGAS000010001109606EGAD00001000173EGAD00001000229EGAD00001000435EGAD00001000311EGAC00001000205