High-Throughput Next Generation Sequencing: Applications in Reproductive Diagnosis and Research

Crossmark: check for updates

Authors

  • Parveen Parasar Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA

DOI:

https://doi.org/10.17140/GOROJ-3-131

Abstract

Genes in a genome can be identified by creating a complementary DNA (cDNA) library from the pool of ribonucleic acid (RNA) transcripts. To generate a cDNA library, the RNA transcripts from a tissue or from cells are copied into more stable cDNA molecules, which are then stored into an appropriate vector to generate a collection of cDNA clones. The single pass, short 300-500 nucleotide sequences obtained from sequencing either end of the cDNA insert are called expressed sequence tags (ESTs). ESTs can be generated from the cDNA libraries obtained from the patient tissue/samples.

References

Cordero P, Ashley EA. Whole-genome sequencing in person-alized therapeutics. Clin Pharmacol Ther. 2012; 91(6):1001- 1009.

Simon R, Roychowdhury S. Implementing personalized cancer genomics in clinical trials. Nat Rev Drug Discov. 2013; 12(5): 358-369. doi: 10.1038/nrd3979

Yegnasubramaniam S. Explanatory chapter: Next genera-tion sequencing. Methods Enzymol. 2013; 529:201-208. doi: 10.1016/B978-0-12-418687-3.00016-1

Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clini-cal laboratory standards for next-generation sequencing. Genet Med. 2013; 15(9): 733-747. doi: 10.1038/gim.2013.92

Bombard Y, Bach PB, Offit K. Translating genomics in cancer care. J Natl Compr Cancer Netw. 2013; 11: 1343-1353.

Kennedy BA, Deatherage DE, Gu F, et al. ChIP-seq defined genome-wide map of TGFβ/SMAD4 targets: Implications with clinical outcome of ovarian cancer. PLoS One. 2011; 6(7): e22606. doi: 10.1371/journal.pone.0022606

Hallam S, Nelson H, Greger V, et al. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. J Mol Diagn. 2014, 16: 180-189. doi: 10.1016/j.jmoldx.2013.10.006

Fiorentino F, Bono S, Biricik A, et al. Application of next-generation sequencing technology for comprehensive aneu-ploidy screening of blastocysts in clinical preimplantation ge-netic screening cycles. Hum Reprod. 2014; 29: 2802-2813. doi: 10.1093/humrep/deu277

Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. New Engl J Med. 2014; 370(9). Web site. http://www.nejm.org/doi/pdf/10.1056/ nejmoa1311037. Accessed June 2nd, 2016

Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. New Engl J Med. 2015; 372: 1589-1597. doi: 10.1056/NEJMoa1407349

Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: Results from 500 unselect-ed families. Genet Med. 2014; 17(7): 578-586. doi: 10.1038/ gim.2014.154

Díaz-Gimeno P, Ruíz-Alonso M, Blesa D, Simón C. Tran-scriptomics of the human endometrium. Int J Dev Biol. 2014; 58(2-4): 127-137. doi: 10.1387/ijdb.130340pd

Werner T. Next generation sequencing allows deeper analy-sis and understanding of genomes and transcriptomes including aspects to fertility. Reprod Fertil Dev. 2011; 23(1): 75-80. doi: 10.1071/RD10247

Downloads

Published

2016-07-28

How to Cite

Parveen Parasar. (2016). High-Throughput Next Generation Sequencing: Applications in Reproductive Diagnosis and Research. Gynecology and Obstetrics Research, 3(1), 19–22. https://doi.org/10.17140/GOROJ-3-131