<p>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.</p>

Familial Exome Sequencing in Rare Pediatric Phenotypes

Mendelian Randomization Analysis study with SNP Genotypes (Array), WXS data on BDC (6 participants)

Familial Exome Sequencing in Rare Pediatric Phenotypes

Description

Applying For Access

Summary