Study
Exome sequence of probands in Barrett s oesophagus families
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001000531 | Other |
Study Description
Barrett?s oesophagus is common in the UK affecting 2 % of the population. Family history has beenrecorded among the 4000 Barrett's cases collected so far and have 241 families. Among them wehave assessed 6 multiplex families with proven Barrett?s and defined as having 1 pro band and atleast 3 affected first degree members. We propose to exome sequence the probands of these sixfamilies to assess the presence of pathogenic rare coding variants.
Study Datasets 1 dataset.
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| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001002181 |
Barrett?s oesophagus is common in the UK affecting 2 % of the population. Family history has been
recorded among the 4000 Barrett's cases collected so far and have 241 families. Among them we
have assessed 6 multiplex families with proven Barrett?s and defined as having 1 pro band and at
least 3 affected first degree members. We propose to exome sequence the probands of these six
families to assess the presence of pathogenic rare coding variants.
|
Illumina HiSeq 2000 | 6 |
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