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. © Springer Science+Business Media, LLC 2013.

Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations / Eric, Londin; Priyanka, Yadav; Saul, Surrey; Larry J., Kricka; Fortina, Paolo. - STAMPA. - 1015(2013), pp. 127-146. - METHODS IN MOLECULAR BIOLOGY. [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.

FORTINA, PAOLO
2013

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. © Springer Science+Business Media, LLC 2013.
Pharmacogenomics
9781627034340
9781627034357
massively parallel sequencing; genome-wide association study; linkage analysis; pharmacogenomics; ngs-applications
02 Pubblicazione su volume::02a Capitolo o Articolo
Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations / Eric, Londin; Priyanka, Yadav; Saul, Surrey; Larry J., Kricka; Fortina, Paolo. - STAMPA. - 1015(2013), pp. 127-146. - METHODS IN MOLECULAR BIOLOGY. [10.1007/978-1-62703-435-7_8].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/556792
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