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Related Concept Videos

Next-generation Sequencing03:00

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
Although all next-generation methods use different technologies, they all share a set of standard features....
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RNA-seq03:21

RNA-seq

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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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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Sanger Sequencing01:57

Sanger Sequencing

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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...
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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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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...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
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Related Experiment Video

Updated: Jan 19, 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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Long-read sequencing for rare human genetic diseases.

Satomi Mitsuhashi1, Naomichi Matsumoto2

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa, Japan. satomits@yokohama-cu.ac.jp.

Journal of Human Genetics
|September 28, 2019
PubMed
Summary

Long-read sequencing offers hope for diagnosing rare genetic diseases with unknown causes by overcoming limitations of short-read technologies. This approach can identify mutations in challenging genomic regions, improving genetic disease understanding and future therapies.

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Last Updated: Jan 19, 2026

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Short-read sequencing has limitations in diagnosing rare genetic diseases, with diagnostic rates below 50% for many unsolved cases.
  • Pathogenic mutations may reside in difficult-to-sequence genomic regions, such as tandem repeats or complex structural variations, missed by conventional methods.

Purpose of the Study:

  • To explore the potential of long-read sequencing technologies for identifying causative mutations in rare genetic diseases.
  • To highlight how long-read sequencing can address the diagnostic gap and advance understanding of genetic disorders.

Main Methods:

  • Review of studies utilizing long-read sequencing for genome analysis.
  • Application of long-read sequencing to identify pathogenic variants in unsolved genetic diseases.

Main Results:

  • Long-read sequencing successfully analyzes challenging genomic regions, including tandem repeats and structural aberrations.
  • Studies demonstrate the utility of long-read sequencing in identifying causative mutations for previously undiagnosed genetic diseases.

Conclusions:

  • Long-read sequencing holds significant promise for improving diagnostic rates in rare genetic diseases.
  • Further application of long-read sequencing can deepen our understanding of the human genome and disease mechanisms, paving the way for future molecular diagnostics and therapies.