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Related Concept Videos

Genomics02:02

Genomics

35.6K
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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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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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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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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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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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.
Challenges of the Maxam-Gilbert Method
The...
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Related Experiment Video

Updated: May 23, 2025

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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Expert consensus on clinical genome sequencing interpretation and reporting.

Yulan Lu1, Guozhuang Li2, Yaqiong Wang3

  • 1Guangzhou Women and Children's Medical Center, Guangzhou 511400, China.

Yi Chuan = Hereditas
|March 11, 2025
PubMed
Summary

Clinical genome sequencing (cGS) offers accurate genetic variant identification for diagnosing diseases. This expert consensus provides guidelines for its workflow, data analysis, and ethical considerations to improve clinical utility and research.

Keywords:
genetic rare diseasesgenetic testing reportgenome sequencinghigh-throughput sequencing data analysisvariant interpretation

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Area of Science:

  • Genomics
  • Medical Diagnostics
  • Bioinformatics

Background:

  • Genome sequencing (GS) is a comprehensive technology for detecting DNA sequences and identifying genetic variants.
  • GS is an emerging diagnostic tool with high throughput, accuracy, and comprehensiveness for clinical diagnosis.
  • Challenges include complex data analysis, interpretation, and ethical considerations like informed consent and report content.

Purpose of the Study:

  • To outline the core workflow of clinical genome sequencing (cGS).
  • To clarify the testing scope and technical limitations of cGS.
  • To address ethical and technical issues in the clinical application of cGS.

Main Methods:

  • Expert consensus development.
  • Review of core workflow for cGS.
  • Guidelines for data quality control, analysis, annotation, and variant interpretation.
  • Discussion of ethical issues, including informed consent and report content.

Main Results:

  • A defined workflow for clinical genome sequencing.
  • Clarification of testing scope and limitations.
  • Key steps for data analysis and variant interpretation.
  • Addressing controversial issues in clinical reporting and consent.

Conclusions:

  • Accurate understanding and utilization of cGS can improve diagnostic accuracy for genetic diseases.
  • Enhanced clinical utility of GS technology.
  • Advancement of medical scientific research through standardized cGS practices.