Study

Whole exome sequencing of additional thyroid disease cases

Study ID Alternative Stable ID Type
EGAS00001001114 Other

Study Description

Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH).

Study Datasets 3 datasets.

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Dataset ID Description Technology Samples
EGAD00001001460
Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2015-08-05.
Illumina HiSeq 2000 62
EGAD00001003331
Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2017-05-11.
Illumina HiSeq 2000,Illumina HiSeq 2500 78
EGAD00001004293
Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). . This dataset contains all the data available for this study on 2018-08-13.
Illumina HiSeq 2000,Illumina HiSeq 2500 110

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