<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)