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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.
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Maxam-Gilbert Sequencing01:05

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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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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. 
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Genomics02:02

Genomics

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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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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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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Updated: Mar 10, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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[Resolving Genomic Mysteries with Long-read Sequencing].

Omer Murik1, David Zeevi1, Tzvia Mann1

  • 1The Fuld Family Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, Israel.

Harefuah
|March 9, 2026
PubMed
Summary
This summary is machine-generated.

Long-read sequencing (LRS) offers improved diagnosis for rare genetic conditions by overcoming short-read limitations. LRS enhances detection of complex variants and structural changes, advancing genetic testing precision.

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Area of Science:

  • Genomics and Bioinformatics
  • Clinical Genetics
  • Molecular Diagnostics

Background:

  • Short-read next-generation sequencing (srNGS) is standard for rare genetic disease diagnosis but struggles with structural variants (SVs) and repetitive regions.
  • srNGS has limitations in detecting variants across large genomic distances, impacting diagnostic yield.
  • Limitations of srNGS necessitate advanced sequencing technologies for comprehensive genetic analysis.

Purpose of the Study:

  • To review the principles and advantages of long-read sequencing (LRS) in human genetics.
  • To evaluate the impact of LRS on diagnosing rare genetic disorders compared to conventional methods.
  • To highlight recent clinical applications and advancements of LRS in genetic diagnostics.

Main Methods:

  • Review of existing literature on short-read and long-read sequencing technologies.
  • Analysis of LRS capabilities in analyzing repetitive regions and detecting structural variants.
  • Examination of LRS's role in phasing distant variants and improving clinical interpretation.

Main Results:

  • LRS enables sequencing of much longer DNA fragments (thousands to millions of base pairs).
  • LRS significantly improves the detection and analysis of structural variants and complex genomic regions.
  • LRS facilitates variant phasing over large genomic distances, crucial for accurate diagnosis.

Conclusions:

  • Long-read sequencing represents a significant advancement in genetic diagnostics, enhancing precision and reducing turnaround times.
  • LRS is crucial for identifying pathogenic variants missed by srNGS, improving diagnostic yield for rare genetic disorders.
  • The implementation of LRS in clinical practice is transforming the landscape of genetic testing and interpretation.