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Figure 3 | Genome Medicine

Figure 3

From: Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

Figure 3

A general workflow for dissecting genetics of complex traits using different NGS methodologies. Various NGS methods (targeted re-sequencing, exome-chip, whole exome and genome sequencing) can be applied separately or in combination with each other for identification of candidate genes in complex RDDs. Expression and eQTL analysis in retinal tissues can provide the second level of filtering for prioritizing the candidates. Pathway and network analysis can further help in understanding the relationship and interactions among candidates. Ultimately, the functional dissection of candidates would be needed for establishing their roles in disease pathogenesis.

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