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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.
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%...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Simple and efficient identification of rare recessive pathologically important sequence variants from next generation

Ian M Carr1, Joanne Morgan, Christopher Watson

  • 1School of Medicine, University of Leeds, Leeds, United Kingdom. i.m.carr@leeds.ac.uk

Human Mutation
|April 5, 2013
PubMed
Summary

Next-generation sequencing (NGS) aids in finding mutations for rare diseases. A new user-friendly software suite, Agile Suite, helps analyze and filter NGS data, overcoming a key bottleneck in variant identification for research and diagnostics.

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Area of Science:

  • Genomics and Bioinformatics
  • Molecular Biology
  • Medical Genetics

Background:

  • Massively parallel sequencing (next-generation sequencing, NGS) is crucial for identifying pathogenic mutations in monogenic diseases.
  • Enrichment of protein-coding regions (exome sequencing) is a common prerequisite for DNA sequencing.
  • Filtering sequence variants against polymorphism databases is essential but remains a bottleneck.

Purpose of the Study:

  • To develop a user-friendly approach for analyzing and filtering next-generation sequencing data.
  • To address the bottleneck in identifying deleterious sequence variants in research and diagnostic settings.
  • To facilitate small-scale gene discovery and diagnostic analysis using NGS data.

Main Methods:

  • Development of a software suite named 'Agile Suite' for interactive analysis, filtering, and screening of NGS data.
  • Focus on data generated from enrichment-capture next-generation sequencing.
  • Designed for users with limited computing infrastructure and bioinformatics expertise.

Main Results:

  • The Agile Suite provides an effective method for interactive analysis of NGS data.
  • The software facilitates the filtering and screening of sequence variants.
  • It is particularly suitable for small-scale gene discovery and diagnostic applications.

Conclusions:

  • The Agile Suite overcomes a significant bottleneck in variant identification from NGS data.
  • This user-friendly tool empowers smaller research groups and diagnostic labs to effectively utilize NGS technology.
  • It supports the identification of causative variants in rare monogenic diseases.