High-Throughput Next Generation Sequencing: Applications in Reproductive Diagnosis and Research
Journal Title: Gynecology and Obstetrics Research – Open Journal - Year 2017, Vol 3, Issue 1
Abstract
The genetic information contained within a cell is transferred through the process of transcription of genes within a genome to produce messenger RNAs (mRNAs) and translation of mRNAs to synthesize proteins. The central dogma pathway represents all three stages of replication, transcription, and translation in the pathway: DNA RNA Protein 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. Those ESTs can be used to determine the genes that express them and to determine whether they possess any nucleotide or single nucleotide polymorphisms (SNPs) in comparison to normal individual. The sites where deoxyribonucleic acid (DNA) sequences are different at a single nucleotide are called SNPs. Similarly, capability to detect and identify mutations in genes has been utilized by high-throughput sequencing methods.
Authors and Affiliations
Parveen Parasar
Keywords
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- EP ID EP553798
- DOI 10.17140/GOROJ-3-131
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