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Exome sequencing of thyroid disease in Val Borbera

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.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000344 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000165128 bam 3.7 GB
EGAF00000165129 bam 3.1 GB
EGAF00000165130 bam 3.1 GB
EGAF00000165131 bam 3.4 GB
EGAF00000165132 bam 3.3 GB
EGAF00000165133 bam 3.8 GB
EGAF00000165134 bam 3.5 GB
EGAF00000165135 bam 3.4 GB
EGAF00000166456 bam 4.5 GB
EGAF00000166457 bam 3.9 GB
EGAF00000166458 bam 3.8 GB
EGAF00000166459 bam 4.2 GB
EGAF00000166460 bam 4.0 GB
EGAF00000166461 bam 4.6 GB
EGAF00000166462 bam 4.4 GB
EGAF00000166463 bam 4.2 GB
16 Files (60.9 GB)