Next generation sequencing: implications in personalized medicine and pharmacogenomics

被引：71

作者：

Rabbani, Bahareh ^{[1
]}

Nakaoka, Hirofumi ^{[2
]}

Akhondzadeh, Shahin ^{[3
]}

Tekin, Mustafa ^{[4
]}

Mahdieh, Nejat ^{[1
]}

机构：

[1] Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran

[2] Natl Inst Genet, Div Human Genet, Dept Integrated Genet, Yata 1111, Mishima, Shizuoka 4118540, Japan

[3] Univ Tehran Med Sci, Roozbeh Psychiat Hosp, Psychiat Res Ctr, Tehran, Iran

[4] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA

来源：

MOLECULAR BIOSYSTEMS | 2016年 / 12卷 / 06期

关键词：

GENOME-WIDE ASSOCIATION; COPY-NUMBER VARIATION; STRUCTURAL VARIATION; GENETIC-VARIATION; BREAST-CANCER; WHOLE-EXOME; COMMON VARIANTS; CHALLENGES; MUTATIONS; PROFILES;

D O I：

10.1039/c6mb00115g

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A breakthrough in next generation sequencing (NGS) in the last decade provided an unprecedented opportunity to investigate genetic variations in humans and their roles in health and disease. NGS offers regional genomic sequencing such as whole exome sequencing of coding regions of all genes, as well as whole genome sequencing. RNA-seq offers sequencing of the entire transcriptome and ChIP-seq allows for sequencing the epigenetic architecture of the genome. Identifying genetic variations in individuals can be used to predict disease risk, with the potential to halt or retard disease progression. NGS can also be used to predict the response to or adverse effects of drugs or to calculate appropriate drug dosage. Such a personalized medicine also provides the possibility to treat diseases based on the genetic makeup of the patient. Here, we review the basics of NGS technologies and their application in human diseases to foster human healthcare and personalized medicine.

引用

页码：1818 / 1830

页数：13

共 141 条

[21] Whole-genome re-sequencing [J].

Bentley, David R. .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2006, 16 (06) :545-552

[22] Mammalian social odours: attraction and individual recognition [J].

Brennan, Peter A. ;

Kendrick, Keith M. .

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 2006, 361 (1476) :2061-2078

[23]

Carey M. F., 2009, COLD SPRING HARB PRO, V2009

[24] Challenges in pharmacogenetics [J].

Cascorbi, Ingolf ;

Bruhn, Oliver ;

Werk, Anneke N. .

EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY, 2013, 69 :S17-S23

[25] APPLICATIONS OF NEXT-GENERATION SEQUENCING Genetic variation and the de novo assembly of human genomes [J].

Chaisson, Mark J. P. ;

Wilson, Richard K. ;

Eichler, Evan E. .

NATURE REVIEWS GENETICS, 2015, 16 (11) :627-640

[26] Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes [J].

Chen, Rui ;

Mias, George I. ;

Li-Pook-Than, Jennifer ;

Jiang, Lihua ;

Lam, Hugo Y. K. ;

Chen, Rong ;

Miriami, Elana ;

Karczewski, Konrad J. ;

Hariharan, Manoj ;

Dewey, Frederick E. ;

Cheng, Yong ;

Clark, Michael J. ;

Im, Hogune ;

Habegger, Lukas ;

Balasubramanian, Suganthi ;

O'Huallachain, Maeve ;

Dudley, Joel T. ;

Hillenmeyer, Sara ;

Haraksingh, Rajini ;

Sharon, Donald ;

Euskirchen, Ghia ;

Lacroute, Phil ;

Bettinger, Keith ;

Boyle, Alan P. ;

Kasowski, Maya ;

Grubert, Fabian ;

Seki, Scott ;

Garcia, Marco ;

Whirl-Carrillo, Michelle ;

Gallardo, Mercedes ;

Blasco, Maria A. ;

Greenberg, Peter L. ;

Snyder, Phyllis ;

Klein, Teri E. ;

Altman, Russ B. ;

Butte, Atul J. ;

Ashley, Euan A. ;

Gerstein, Mark ;

Nadeau, Kari C. ;

Tang, Hua ;

Snyder, Michael .

CELL, 2012, 148 (06) :1293-1307

[27] Integration of cytogenetic landmarks into the draft sequence of the human genome [J].

Cheung, VG ;

Nowak, N ;

Jang, W ;

Kirsch, IR ;

Zhao, S ;

Chen, XN ;

Furey, TS ;

Kim, UJ ;

Kuo, WL ;

Olivier, M ;

Conroy, J ;

Kasprzyk, A ;

Massa, H ;

Yonescu, R ;

Sait, S ;

Thoreen, C ;

Snijders, A ;

Lemyre, E ;

Bailey, JA ;

Bruzel, A ;

Burrill, WD ;

Clegg, SM ;

Collins, S ;

Dhami, P ;

Friedman, C ;

Han, CS ;

Herrick, S ;

Lee, J ;

Ligon, AH ;

Lowry, S ;

Morley, M ;

Narasimhan, S ;

Osoegawa, K ;

Peng, Z ;

Plajzer-Frick, I ;

Quade, BJ ;

Scott, D ;

Sirotkin, K ;

Thorpe, AA ;

Gray, JW ;

Hudson, J ;

Pinkel, D ;

Ried, T ;

Rowen, L ;

Shen-Ong, GL ;

Strausberg, RL ;

Birney, E ;

Callen, DF ;

Cheng, JF ;

Cox, DR .

NATURE, 2001, 409 (6822) :953-958

[28] Genetic diagnosis by whole exome capture and massively parallel DNA sequencing [J].

Choi, Murim ;

Scholl, Ute I. ;

Ji, Weizhen ;

Liu, Tiewen ;

Tikhonova, Irina R. ;

Zumbo, Paul ;

Nayir, Ahmet ;

Bakkaloglu, Aysin ;

Ozen, Seza ;

Sanjad, Sami ;

Nelson-Williams, Carol ;

Farhi, Anita ;

Mane, Shrikant ;

Lifton, Richard P. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (45) :19096-19101

[29]

Clarke J, 2009, NAT NANOTECHNOL, V4, P265, DOI [10.1038/NNANO.2009.12, 10.1038/nnano.2009.12]

[30] Finishing the euchromatic sequence of the human genome [J].

Collins, FS ;

Lander, ES ;

Rogers, J ;

Waterston, RH .

NATURE, 2004, 431 (7011) :931-945

← 1 2 3 4 5 6 7 8 9 10 →