Abstract
Since Mendel's Laws were first described in the 1800s, methods have developed for determining both how a trait is transmitted through generations and what genetic variation contribute to the trait. Segregation analysis elucidates the mode of inheritance for a trait based on phenotypic data collected on families. Genetic linkage and genome-wide association studies identify the genetic variation that are contributing to a trait. The genetic variation underlying a trait can be identified through multiple sequencing approaches. These could include whole genome and exome sequencing as well as epigenetic sequencing methods that interrogate the three-dimensional and dynamic architecture of the human genome. Together, these molecular techniques and statistical analyses have broadened our understanding of the genetic etiology of several ocular traits and diseases.
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