Korean J Perinatol.  2014 Sep;25(3):133-139. 10.14734/kjp.2014.25.3.133.

Next Generation DNA Sequencing and Its Application in Clinical Medicine

• Cho S

• KMID: 2280986
• DOI: http://doi.org/10.14734/kjp.2014.25.3.133

Abstract

Watson and Crick published a paper on the double helical structure of DNA in Nature in April 25, 1953. The human genome is contained in the 23 pairs of chromosomes and in the mitochondrial DNA of each cell. The Human Genome Project was launched in 1990 under the direction of Watson and concluded in 2003, on the 50th anniversary of Watson and Crick paper. Over 6 billion of nucleotides of genetic codes are in single cells. There are 23,000 protein coding genes and the remainder are non-coding DNA, regulatory DNA. Since the completion of Human Genome Project, these huge genomic information has been translated into clinically usable medical information. With the advent of massively parallel DNA sequencing, known as next generation DNA sequencing, the cost and turn-around time were significantly reduced so that the era of Whole Genome Sequencing entered into hospitals and medical clinics. On June 16, 2014 American Society of Human Genetics revised its mission statement as follows. "Our mission is to advance human genetics in science, health and society through research, education and advocacy". Finally medical genetics nestled its roots in the midst of genetics and genomics.

Keyword

New generation DNA sequencing; Whole genome/exome sequencing; Human genetic disease

MeSH Terms

Anniversaries and Special Events
Clinical Coding
Clinical Medicine*
DNA
DNA, Mitochondrial
Education
Genetic Code
Genetics
Genetics, Medical
Genome
Genome, Human
Genomics
Human Genome Project
Humans
Missions and Missionaries
Nucleotides
Sequence Analysis, DNA*
DNA
DNA, Mitochondrial
Nucleotides

Reference

1.Green RC., Berg JS., Grody WW., Kalia SS., Korf BR., Martin CL, et al. ACMG recommendations for reporting of inci-dental findings in clinical exome and genome sequencing. Genet Med. 2013. 15:565–74.

2.Grody WW., Thompson BH., Hudgins L. Whole-exome/genome sequencing and genomics. Pediatrics. 2013. 132(Suppl 3):211–5.

3.Bianchi DW., Parker RW., Wentworth J., Madankumar R., Saffer C., Das AF, et al. DNA sequencing versus prenatal aneuploidy screening. N Eng J Med. 2014. 370:799–808.

4.Bianchi DW., Platt LD., Goldberg JD., Abuhamad AZ., Sehnert AJ., Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012. 119:890–901.

5.Greene MF., Phimister EG. Screening for trisomies in circulating DNA. N Engl J Med. 2014. 370:874–5.

6.Simpson JL. Is cell-free fetal DNA from maternal blood finally ready for prime time? Obstet Gynecol. 2012. 119:883–5.

7.Landau YE., Lichter-Konecki U., Levy HL. Genomics in newborn screening. J Pediatr. 2014. 164:14–9.

8.Greeley SA., Msall ME., Acharya K. Genomic sequencing in newborn screening programs. JAMA. 2012. 307:2146–7.

9.Shah AA., Wang D., Hirsch E. Next-generation sequencing of maternal serum to detect viruses in women with labor or premature rupture of membranes. Obstet Gynecol. 2014. 123(Suppl 1):35–6.

10.Korf BR., Rehm HL. New approach to molecular diagnosis. JAMA. 2013. 309:1511–21.

11.Jacob HJ. Next-generation sequencing for clinical diagnostics. N Eng J Med. 2013. 369:1557–8.

12.Abdul-Karim R., Berkman BE., Wendler D., Rid A., Khan J., Badgett T, et al. Disclosure of incidental findings from next-generation sequencing in pediatric genomic research. Pediatrics. 2013. 131:564–71.