Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations.

Abstract excerpt

For the past two decades, linkage analysis and genome-wide analysis have greatly advanced our knowledge of the human genome. But despite these successes the genetic architecture of diseases remains unknown. More recently, the availability of next-generation sequencing has dramatically increased our capability for determining DNA sequences that range from large portions of one individual's genome to targeted...

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