Familial Exome Sequencing in Rare Pediatric Phenotypes

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.

• Type: Parent-Offspring Trios
• Archiver: The database of Genotypes and Phenotypes (dbGaP)