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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.
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
Genetic Screens02:46

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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.
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Genomics

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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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

Published on: April 4, 2018

Next-generation sequencing demands next-generation phenotyping.

Raoul C M Hennekam1, Leslie G Biesecker

  • 1Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. r.c.hennekam@amc.uva.nl

Human Mutation
|March 30, 2012
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) revolutionizes diagnostics by analyzing all genes at once. However, detailed phenotyping remains crucial for interpreting complex genetic results and making accurate diagnoses.

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Area of Science:

  • Genetics
  • Medical Diagnostics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) offers unprecedented power for genetic analysis.
  • The role of phenotyping in the era of NGS has been questioned.
  • Understanding complex genetic diseases requires more than just sequencing data.

Purpose of the Study:

  • To analyze the evolving role of phenotyping in medical genetics.
  • To explore the impact of NGS on diagnostic approaches.
  • To emphasize the continued importance of clinical assessment alongside genetic testing.

Main Methods:

  • Review of current diagnostic paradigms.
  • Analysis of the implications of large-scale genetic data.
  • Integration of clinical findings with genomic information.

Main Results:

  • NGS shifts diagnostic focus from pre-testing to post-testing assessment.
  • Interpreting NGS results requires integrating variants with clinical phenotypes.
  • Complex phenotypes result from gene-gene, epigenetic, and environmental interactions.

Conclusions:

  • Phenotyping remains essential for accurate diagnosis with NGS.
  • Medical geneticists' skills are vital for interpreting complex genetic data.
  • A shift towards post-NGS diagnostic assessment is predicted.