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.

Rare Diseases Sample Sets

UK10K_RARE_SIR

The Severe Insulin Resistance (SIR) sample set.

Additional restrictions on data use:
No constraints.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000130
Contact:
Robert Semple
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000153 (38)
EGAD00001000188 (63)
EGAD00001000218 (81)
EGAD00001000334 (111)
EGAD00001000419 (121) Main release
EGAD00001000757 (2) Extra samples

UK10K_RARE_NEUROMUSCULAR

The samples for genetic neuromuscular diseases fall into the following groups:

  • Congenital muscular dystrophies and congenital myopathies.
  • Neurogenic conditions.
  • Mitochondrial disorders.
  • Periodic paralysis.
Additional restrictions on data use:
No additional constraints.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000101
Contact:
Francesco Muntoni
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000180 (46)
EGAD00001000189 (84)
EGAD00001000219 (100)
EGAD00001000298 (109)
EGAD00001000418 (119) Main release
EGAD00001000804 (1) Follow up WGS study
EGAD00001000754 (5) Follow up WGS study

UK10K_RARE_COLOBOMA

Ocular coloboma is the most common significant developmental eye defect with an incidence of ~1 in 5,000 live births. It results from failure of optic fissure closure during embryogenesis. The position and extent of the fusion failure dictates the clinical appearance and functional effect. ~30% of coloboma cases are associated with other systemic malformations. These UK10K samples will mostly comprise isolated coloboma cases without systemic involvement (a.k.a. non-syndromal coloboma). There is strong evidence from family studies that coloboma has a major genetic component with autosomal dominance being the most common pattern of inheritance. However, many cases are isolated or show complex patterns of familial clustering. The genes responsible for isolated coloboma are largely unknown, but in a small number of families mutations in SHH, CHX10, and PAX6 have been identified indicating marked genetic heterogeneity. Thus in addition to the clinical benefits of achieving a molecular diagnosis there are also major scientific advantages to identifying coloboma genes, as these are likely to provide insights into the complex process of optic fissure closure, that is critical to normal eye development. In the longer term, understanding the molecular basis of the disease may provide clues to therapeutic strategies.

Additional restrictions on data use:
"Users" are constrained to use the data to understand the genetic basis of eye malformations.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000127
Contact:
David Fitzpatrick
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000179 (75)
EGAD00001000185 (98)
EGAD00001000206 (123)
EGAD00001000307 (117)
EGAD00001000415 (123) Main release

UK10K_RARE_CHD

The Congenital Heart Disease data set.

Additional restrictions on data use:
The data must be used for CHD related research only.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000125
Contact:
Shoumo Bhattacharya
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000178 (46)
EGAD00001000192 (46)
EGAD00001000210 (124)
EGAD00001000294 (124)
EGAD00001000413 (125) Main release

UK10K_RARE_CILIOPATHIES

The ciliopathies are an emerging group of disorders that arise from some dysfunction of cilia both motile or immotile forms. It is predicted that over 100 known conditions are likely to fall under this category, but only a handful have thus far been studied in any depth. Most individual ciliopathies are rare with just a small number of cases having been reported, thereby presenting researchers with often insurmountable difficulties for causative gene identification.

Additional restrictions on data use:
"Users" are restricted to use the data for research on Ciliopathies only.
Data can be used as controls:
No
EGA Study ID:
EGAS00001000126
Contact:
Phil Beales
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000168 (50)
EGAD00001000191 (99)
EGAD00001000217 (121)
EGAD00001000296 (108)
EGAD00001000414 (122) Main release
EGAD00001000802 (2) Follow up WGS study
EGAD00001000752 (4) Follow up WGS study

UK10K_RARE_FIND

Familial INtellectual Disability (FIND) is a cohort of families with intellectual impairment. Affected members in families are at the extreme end of the spectrum with the majority having moderate to severe intellectual disability.

Additional restrictions on data use:
Use of the data is restricted to research on the genetic cause of intellectual disability.
Data can be used as controls:
No for general use. Yes if the focus of the research is the genetic cause of intellectual disability.
EGA Study ID:
EGAS00001000128
Contact:
Lucy Raymond
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000171 (44)
EGAD00001000190 (90)
EGAD00001000209 (121)
EGAD00001000297 (124)
EGAD00001000416 (124) Main release
EGAD00001000750 (1151) Follow up exome study
EGAD00001000803 (2) Follow up WGS study
EGAD00001000753 (4) Follow up WGS study

UK10K_RARE_THYROID

Two cohorts of subjects are being analysed: Individuals with Congenital Hypothyroidism (CH) due either to dysgenesis or dyshormonogenesis; and patients with Resistance to Thyroid hormone (RTH), a disorder characterized by elevated thyroid hormones and variable tissue refractoriness to hormone action.

Additional restrictions on data use:
No additional constraints.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000131
Contact:
Krishna Chatterjee
Number of samples sent to sequencing:
123
Datasets (Number of samples available):
EGAD00001000152 (27)
EGAD00001000187 (65)
EGAD00001000208 (65)
EGAD00001000329 (114)
EGAD00001000420 (123)
EGAD00001000805 (2) Follow up WGS study

UK10K_RARE_HYPERCHOL

Familial Hypercholesterolemia is a condition where the affected person has a consistently high level of LDL, which can lead to early clogging of the coronary arteries. All patients selected for this study will have been found not to carry the common APOB and PCSK9 mutations, and to have no detectable LDLR mutations by testing for 18 common mutations and by molecular screening methods including SSCP and HRM, and by MLPA for gross deletions/insertions.

Additional restrictions on data use:
No additional constraints.
Data can be used as controls:
Yes
EGA Study ID:
EGAS00001000129
Contact:
Steve Humphries
Number of samples sent to sequencing:
125
Datasets (Number of samples available):
EGAD00001000167 (48)
EGAD00001000186 (71)
EGAD00001000207 (88)
EGAD00001000295 (121)
EGAD00001000417 (125)

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