Exome sequencing of thyroid disease in Val Borbera

Dataset ID Technology Samples
EGAD00001000729 Illumina HiSeq 2000 8

Dataset Description

The Val Borbera is a region characterized by low iodine and high prevalence of thyroid disorders, the commonest endocrine disorders in the general population. About 30% of the participants of the Val Borbera Project were affected by such disorders and were characterized by several parameters, TSH level, anti TPO antibodies, echography, family origin. Individuals with extreme phenotypes were identified and could be clustered based on family origin and genotype.
We propose to exome sequence 6 of them, affected with true goiter, at high dept (40-60x) to obtain information on exonic rare variants. Due to the family structure and to the availability of whole genome sequence information on 110 individuals from the isolated population we expect to be able to identify putative causative variants for thyroid disorders that may be studied in the remaining affected individuals.

Data Use Conditions


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Label Code Version Modifier
general research use DUO:0000042 2021-02-23
institution specific restriction DUO:0000028 2021-02-23
publication required DUO:0000019 2021-02-23
user specific restriction DUO:0000026 2021-02-23
project specific restriction DUO:0000027 2021-02-23