Familial Exome Sequencing in Rare Pediatric Phenotypes

Study ID Alternative Stable ID Type
phs000553 Parent-Offspring Trios

Study Description

To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.

Archive Link Archive Accession
dbGaP phs000553

Who archives the data?

There are no publications available