<p>The cohort consists of a collection of large multigenerational families where minimally 4 members have advanced age related macular degeneration (AMD). Retinal photographs were used to determine AMD phenotype and genomic DNA extracted from whole blood was used for sequencing. Gender, age at phenotyping, smoking status, self-declared race and ethnicity, and pedigree relationships were collected. Analyses conducted were designed to elucidate the role of known AMD variants and polymorphisms in heritability within the familial cohort and to discover rare variants that may have large genetic effect on AMD in one or more families.</p>

A Joint Linkage/Association Strategy to Interrogate AMD Genetic    Susceptibility

Macular Degeneration study with SNP/CNV Genotypes (NGS) data on dbGaP (95 participants)