Study Detail

TitleFamilial exome sequencing in rare pediatric phenotypes
Study TypeOther
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 sub .. [more]
Center NamedbGaP