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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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
Although all next-generation methods use different technologies, they all share a set of standard features.
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Related Experiment Video

Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Xiaoming Wei1, Xiangchun Ju, Xin Yi

  • 1Beijing Genomics Institute at Shenzhen, Shenzhen, China.

Plos One
|January 5, 2012
PubMed
Summary

This study introduces Targeted DNA-HiSeq, a cost-effective method for identifying gene variants in genetic diseases. The technology accurately detects known and novel mutations, aiding in disease diagnosis and research.

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Last Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Area of Science:

  • Genomics
  • Molecular Biology
  • Genetic Diagnostics

Background:

  • Gene variant identification is crucial for genetic disease research and diagnosis.
  • Targeted gene enrichment combined with next-generation sequencing offers high efficiency and low cost for sequencing specific genes.

Purpose of the Study:

  • To develop and evaluate a novel array-based gene chip for capturing exons of genes associated with 103 genetic diseases.
  • To assess the efficacy of Targeted DNA-HiSeq technology in identifying known and novel mutations in patient samples.

Main Methods:

  • Designed an array-based gene chip targeting 193 genes involved in 103 genetic diseases.
  • Utilized Targeted DNA-HiSeq technology on 7 patient samples and 100 control samples.
  • Confirmed findings using Sanger sequencing and real-time PCR.

Main Results:

  • Achieved 99.14% detection of exons with >30-fold coverage.
  • Identified six known variants in four genes and two novel mutations (STS, FBN1).
  • Detected one exon deletion mutation in the DMD gene.

Conclusions:

  • Targeted DNA-HiSeq demonstrates high selectivity and improves mutation detection, including novel variants and indel data.
  • This method is suitable for analyzing gene variant profiles in monogenic diseases with high sensitivity, fidelity, throughput, and speed.