Familial Exome Sequencing in Rare Pediatric Phenotypes

ABSTRACT:

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.

PROVIDER: phs000553 | dbGaP |

SECONDARY ACCESSION(S): PRJNA177192PRJNA177191

REPOSITORIES: dbGaP