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Methods Mol Biol. 2013;1015:127-46. doi: 10.1007/978-1-62703-435-7_8.

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

Author information

1
Computational Medicine Center, Thomas Jefferson University Jefferson Medical College, Philadelphia, PA, USA.

Abstract

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 regions of many genomes in a cohort of interest. In this review, we highlight the successes and shortcomings that have been achieved using genome-wide association studies (GWAS) to identify the variants contributing to disease. We further review the methods and use of new technologies, based on next-generation sequencing, that are becoming increasingly used to expand our knowledge of the causes of genetic disease.

PMID:
23824853
DOI:
10.1007/978-1-62703-435-7_8
[Indexed for MEDLINE]

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