UK10K Study Samples

Follow the links below for more information about the UK10K Study Samples:

All DAC-controlled UK10K datasets are held at the European Genome-phenome Archive. Read more about data access here.

Neurodevelopment Sample Sets

UK10K_NEURO_MUIR

The sample selection consists of subjects with schizophrenia (SZ), autism, or other psychoses all with mental retardation (learning disability). The samples were initially collected under the leadership of Walter J Muir (deceased), now with Prof. Blackwood, Dr McKechanie and Prof McIntosh as custodians. These subjects represent the intersection of severe forms of neurodevelopmental disorders, appear to have a higher rate of familiality of SZ than typical, and are likely to have more serious and penetrant forms of mutations.

Additional restrictions on data use:
There are no additional constraints on the analyses that can be carried out.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000122
Contact:
Andrew McIntosh
Number of samples sent to sequencing:
176
Datasets (Number of samples available):
EGAD00001000052 (104)
EGAD00001000170 (167)
EGAD00001000236 (167)
EGAD00001000322 (166)
EGAD00001000443 (175) Main release

UK10K_NEURO_ASD_SKUSE

This sample set of UK origin consists of clinically identified subjects with Autism Spectrum Disorders, mostly without intellectual disability (i.e. Verbal IQ > 70). The subjects represent children and adults with Autism, Asperger syndrome or Atypical Autism, identified according to standardized research criteria (ADI-algorithm, ADOS). A minority has identified comorbid neurodevelopmental disorders (e.g. ADHD). Family histories are available, with measures of broader phenotype in first-degree relatives.

Additional restrictions on data use:
The data can only be used for research of autism spectrum disorders.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000114
Contact:
David Skuse
Number of samples sent to sequencing:
361
Datasets (Number of samples available):
EGAD00001000231 (320)
EGAD00001000313 (305)
EGAD00001000614 (341) Main release

UK10K_NEURO_ASD_TAMPERE

The Tampere Autism sample set consists of samples from Finnish subjects with ASD (autism spectrum disorders) with IQs over 70 recruited from a clinical centre for the diagnosis and treatment of children with ASD.

Additional restrictions on data use:
The data can only be used for the research of autism spectrum disorders and no other studies.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000115
Contacts:
Terho Lehtimaki
Kaija Puura
Number of samples sent to sequencing:
57
Datasets (Number of samples available):
EGAD00001000232 (54)
EGAD00001000314 (48)
EGAD00001000437 (55) Main release

UK10K_NEURO_ASD_BIONED

The BioNED (Biomarkers for Childhood onset neuropsychiatric disorders) study has been carrying out detailed phenotypic assessments evaluating children with an autism spectrum disorder. These assessments included ADI-R, ADOS, neuropsychology, EEG etc.

Additional restrictions on data use:
The data can only be used for Autism spectrum disorder and ADHD research.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000111
Contact:
Patrick Bolton
Number of samples sent to sequencing:
84
Datasets (Number of samples available):
EGAD00001000228 (61)
EGAD00001000310 (76)
EGAD00001000434 (77) Main release

UK10K_NEURO_ASD_MGAS

The MGAS (Molecular Genetics of Autism Study) samples are from a clinical sample seen by specialists at the Maudsley hospital and who have had detailed phenotypic assessments with ADI-R and ADOS.

Additional restrictions on data use:
The data can only be used to identify genes for Autism Spectrum Disorders.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000113
Contact:
Patrick Bolton
Number of samples sent to sequencing:
100
Datasets (Number of samples available):
EGAD00001000242 (60)
EGAD00001000312 (96)
EGAD00001000613 (97) Main release

UK10K_NEURO_FSZ

Kuusamo samples

These Finnish schizophrenia samples have been collected from a population cohort using national registers. The entire sample collection consists of 2756 individuals from 458 families of whom 931 are diagnosed with schizophrenia spectrum disorder, each family having at least two affected siblings. 170 families originate from an internal isolate (Kuusamo) with a three-fold life time risk for the trait. The genealogy of the internal isolate is well documented and the individuals form a "megapedigree" reaching to the 17th Century. All diagnoses are based on DSM-IV and for a large fraction of cases there is cognitive data.

Additional restrictions on data use:
Only risk-increasing or protective factors that may be associated with severe mental disorders may be studied using this data set. "Severe" refers to functional limitations caused by the disorder, not to any specific diagnostic group within mental disorders.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000118
Contacts:
Jaana Suvisaari
Tiina Paunio
Aarno Palotie
Number of samples sent to sequencing:
138
Datasets (Number of samples available):
EGAD00001000240 (122)
EGAD00001000318 (119)
EGAD00001000615 (128) Main release

UK10K_NEURO_FSZNK

Non-Kuusamo samples

This Finnish schizophrenia sample set has been collected from a population cohort using national registers. The entire sample collection consists of 2756 individuals from 458 families of whom 931 are diagnosed with schizophrenia spectrum disorder. Families outside Kuusamo (n=288) all had at least two affected siblings. All diagnoses are based on DSM-IV and for one third of cases there is cognitive data.

Additional restrictions on data use:
Only risk-increasing or protective factors that may be associated with severe mental disorders may be studied using this data set. "Severe" refers to functional limitations caused by the disorder, not to any specific diagnostic group within mental disorders.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000119
Contacts:
Jaana Suvisaari
Tiina Paunio
Aarno Palotie
Number of samples sent to sequencing:
285
Datasets (Number of samples available):
EGAD00001000183 (273)
EGAD00001000234 (281)
EGAD00001000332 (258)
EGAD00001000439 (285) Main release

UK10K_NEURO_ASD_FI

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 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.

Additional restrictions on data use:
The data can only be used for research into Autism Spectrum Disorders and no other studies.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000110
Contact:
Aarno Palotie
Number of samples sent to sequencing:
92
Datasets (Number of samples available):
EGAD00001000173 (85)
EGAD00001000229 (85)
EGAD00001000311 (84)
EGAD00001000435 (84) Main release

UK10K_NEURO_IOP_COLLIER

This data set is comprised of samples from 3 different studies:

  • The 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.
  • The 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.
  • The 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.
Additional restrictions on data use:
No additional constraints.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000121
Contact:
David Collier
Number of samples sent to sequencing:
190
Datasets (Number of samples available):
EGAD00001000235 (172)
EGAD00001000321 (158)
EGAD00001000442 (172) Main release

UK10K_NEURO_UKSCZ

These samples have been collected from throughout the UK and Ireland. The samples fall into two main categories. A proportion of these are cases with a positive family history of schizophrenia, either collected as sib-pairs or from multiplex kindred's. The second group consists mainly of samples that have been systematically collected within South Wales and in addition to full diagnostic work up have undergone detailed cognitive testing. All samples have obtained a DSM IV diagnosis of schizophrenia or schizoaffective disorder.

Additional restrictions on data use:
No additional constraints.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000123
Contact:
Michael Owen
Number of samples sent to sequencing:
631
Datasets (Number of samples available):
EGAD00001000182 (96)
EGAD00001000256 (460)
EGAD00001000335 (527)
EGAD00001000430 (553) Main release

UK10K_NEURO_IMGSAC

The IMGSAC data set represents an international collection of families containing children ascertained for ASDs (autism spectrum disorders). The affected individuals have been phenotyped 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.

Additional restrictions on data use:
Use of the data is restricted to the identification of susceptibility alleles for autism and related disorders (i.e. the broader autism phenotype).
Data can be used as controls:
No
EGA Study ID:
EGAS00001000120
Contact:
Jeremy Parr
Number of samples sent to sequencing:
115
Datasets (Number of samples available):
EGAD00001000239 (114)
EGAD00001000320 (111)
EGAD00001000441 (113) Main release

UK10K_NEURO_ABERDEEN

This sample set comprises cases of schizophrenia with additional cognitive measurements, collected in Aberdeen, Scotland.

Additional restrictions on data use:
No additional constraints
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000109
Contact:
David St Clair
Number of samples sent to sequencing:
395
Datasets (Number of samples available):
EGAD00001000227 (347)
EGAD00001000315 (313)
EGAD00001000433 (392) Main release

UK10K_NEURO_ASD_GALLAGHER

This is an Irish sample set of individuals with ASD (approximately 50% with comorbid intellectual disability). Individuals have been diagnosed with ADI/ADOS, measures of cognition/adaptive function. They represent a more severe, narrowly defined cohort of ASD subjects. Family histories are available for some with measures of broader phenotype.

Additional restrictions on data use:
No additional constraints
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000112
Contact:
Nadia Bolshakova
Number of samples sent to sequencing:
78
Datasets (Number of samples available):
EGAD00001000230 (72)
EGAD00001000316 (75)
EGAD00001000436 (77) Main release

UK10K_NEURO_EDINBURGH

This sample set consists of subjects with schizophrenia recruited from psychiatric in-patient and out-patient facilities in Scotland. All diagnoses are based on standard research procedures and family histories are available. Patients have IQ > 70 and the cohort includes the following groups: 100 cases with detailed clinical, cognitive and structural and functional neuroimaging phenotypes; 138 familial cases who are the probands of families where DNA has been collected from other affected members; 162 unrelated individuals. In most cases patients and their families may be re-contacted to take part in further studies.

Additional restrictions on data use:
There are no additional constraints on the analyses that can be carried out.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000117
Contact:
Andrew McIntosh
Number of samples sent to sequencing:
247
Datasets (Number of samples available):
EGAD00001000233 (221)
EGAD00001000317 (214)
EGAD00001000438 (234) Main release

UK10K_NEURO_GURLING

This 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.

Additional restrictions on data use:
No additional constraints.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000225
Contact:
Hugh Gurling
Number of samples sent to sequencing:
51
Datasets (Number of samples available):
EGAD00001000237 (43)
EGAD00001000319 (48)
EGAD00001000440 (48) Main release

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