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Related Concept Videos

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Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
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RNA-seq03:21

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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Genomics02:02

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Related Experiment Video

Updated: Mar 19, 2026

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
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Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.

Vijender Chaitankar1, Gökhan Karakülah1, Rinki Ratnapriya1

  • 1Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD, 20892-0610, USA.

Progress in Retinal and Eye Research
|June 15, 2016
PubMed
Summary

Next-generation sequencing (NGS) advances genetic discovery but poses data challenges. This review outlines NGS methods and analysis recommendations for systems biology in ocular development and disease research.

Keywords:
ChIP-seqChromatinEpigeneticsGene regulatory networkGenomicsHigh throughput dataNGS data integrationNetwork analysisPhotoreceptorRNA-SeqRetinaRetinal diseaseSystems biologyTranscriptomeVisionWhole exome sequencingWhole genome sequencing

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Area of Science:

  • Genomics
  • Ophthalmology
  • Systems Biology

Background:

  • High-throughput next-generation sequencing (NGS) accelerates the discovery of genetic variants linked to diseases.
  • NGS enables genomewide profiling of expressed sequences and epigenetic marks for systems-based analyses.
  • Ocular development and disease research benefits significantly from these advanced genomic approaches.

Purpose of the Study:

  • To illustrate the basic design of common NGS-based methods, including whole exome sequencing, transcriptome, and epigenome profiling.
  • To provide recommendations for the analysis of large datasets generated by NGS.
  • To discuss systems biology approaches for integrating multiple datasets to understand gene regulatory and disease networks.

Main Methods:

  • Whole exome sequencing (WES) for targeted genetic variant discovery.
  • Transcriptome profiling for gene expression analysis.
  • Epigenome profiling for studying epigenetic modifications.

Main Results:

  • NGS methods provide powerful tools for identifying disease-associated genetic variants.
  • Data analysis strategies are crucial for extracting biologically relevant information from large NGS datasets.
  • Systems biology approaches can integrate diverse NGS data to reveal complex biological networks.

Conclusions:

  • NGS technologies are transforming the study of ocular development and disease.
  • Standardized guidelines for NGS data acquisition, management, and analysis are essential.
  • The principles discussed are broadly applicable beyond ophthalmology to other research areas.