Abstract
Molecular diagnostics, the use of diagnostic testing to understand the molecular mechanisms of an individual patient’s disease, will be pivotal in the delivery of safe and effective therapy for many diseases in the future. Diagnostics influence as much as 70 % of health care decision making, and a new generation of diagnostics tests that provide insights at the molecular level is delivering on the promise of personalized medicine. Role of molecular diagnostics in personalized medicine covers the following aspects:
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Abyzov A, Urban AE, Snyder M, Gerstein M. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res. 2011;21:974–84.
Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet. 2010;375:1525–35.
Araki T, Shimizu K, Nakamura K, et al. Usefulness of peptide nucleic acid (PNA)-clamp smart amplification process version 2 (SmartAmp2) for clinical diagnosis of KRAS codon 12 mutations in lung adenocarcinoma: comparison of PNA-clamp SmartAmp2 and PCR-related methods. J Mol Diagn. 2010;12:118–24.
Ball MP, Thakuria JV, Zaranek AW, et al. A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A. 2012;109:11920–7.
Fan HC, Wang J, Potanina A, Quake SR. Whole-genome molecular haplotyping of single cells. Nat Biotechnol. 2011;29:51–7.
Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT. Personalized genomic disease risk of volunteers. Proc Natl Acad Sci U S A. 2013;110:16957–62.
Jain KK. Applications of AmpliChip CYP450. Mol Diagn. 2005;9:119–27.
Jain KK. Handbook of nanomedicine. 2nd ed. New York: Springer; 2012.
Jain KK. Biochips/microarrays. Basel: Jain PharmaBiotech Publications; 2015a.
Jain KK. DNA sequencing. Basel: Jain PharmaBiotech Publications; 2015b.
Jain KK. Molecular diagnostics. Basel: Jain PharmaBiotech Publications; 2015c.
Jain KK. Proteomics. Basel: Jain PharmaBiotech Publications; 2015d.
Kaper F, Swamy S, Klotzle B, et al. Whole-genome haplotyping by dilution, amplification, and sequencing. Proc Natl Acad Sci U S A. 2013;110:5552–7.
Kitzman JO, Mackenzie AP, Adey A, et al. Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol. 2011;29:59–63.
Kuleshov V, Xie D, Chen R, et al. Whole-genome haplotyping using long reads and statistical methods. Nat Biotechnol. 2014;32:261–6.
Lee AP. Microfluidic cellular and molecular detection for lab-on-a-chip applications. Conf Proc IEEE Eng Med Biol Soc. 2009;2009:4147–9.
Lin M, Aquilante C, Johnson JA, Wu R. Sequencing drug response with HapMap. Pharmacogenomics J. 2005;5:149–56.
Medvedev P, Fiume M, Dzamba M, et al. Detecting copy number variation with mated short reads. Genome Res. 2010;20:1613–22.
Melin J, Jarvius J, Larsson C, et al. Ligation-based molecular tools for lab-on-a-chip devices. N Biotechnol. 2008;25:42–8.
Mitani Y, Lezhava A, Kawai Y, et al. Rapid SNP diagnostics using asymmetric isothermal amplification and a new mismatch-suppression technology. Nat Methods. 2007;4:257–62.
Ozsolak F, Milos PM. RNA sequencing: advances, challenges and opportunities. Nat Rev Genet. 2011;12:87–98.
Pullat J, Metspalu A. Arrayed primer extension reaction for genotyping on oligonucleotide microarray. Methods Mol Biol. 2008;444:161–7.
Qin J, Jones RC, Ramakrishnan R. Studying copy number variations using a nanofluidic platform. Nucleic Acids Res. 2008;36(18):e116.
Rotimi CN, Jorde LB. Ancestry and disease in the age of genomic medicine. N Engl J Med. 2010;363:1551–8.
Sieben VJ, Debes Marun CS, Pilarski PM, et al. FISH and chips: chromosomal analysis on microfluidic platforms. IET Nanobiotechnol. 2007;1:27–35.
Tsuji S. The neurogenomics view of neurological diseases. JAMA Neurol. 2013;70:689–94.
Wang K, Dickson SP, Stolle CA, et al. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet. 2010;86:730–42.
Yu X, Schneiderhan-Marra N, Joos TO. Protein microarrays for personalized medicine. Clin Chem. 2010;56:376–87.
Zhu Y, Wang Z, Ni J, et al. Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han Chinese. J Hum Genet. 2014. doi:10.1038/jhg.2014.94.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this chapter
Cite this chapter
Jain, K.K. (2015). Molecular Diagnostics in Personalized Medicine. In: Textbook of Personalized Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-2553-7_2
Download citation
DOI: https://doi.org/10.1007/978-1-4939-2553-7_2
Published:
Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-2552-0
Online ISBN: 978-1-4939-2553-7
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)