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Related Concept Videos

RNA-seq03:21

RNA-seq

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 microarray-based...
Genomics02:02

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...
Overview of Exosomes01:36

Overview of Exosomes

Exosomes are stable, lipid bilayer-enclosed vesicles capable of crossing biological barriers. They can carry a wide range of molecules required for intercellular communication. Once exosomes are released from the cell where they originated, they enter a recipient cell through various pathways such as fusion, receptor-mediated endocytosis, macropinocytosis, and phagocytosis.
Stahl et al. discovered exosomes in 1983, but the exosomes were initially considered waste products released from the...
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.
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
Ribosome Profiling02:24

Ribosome Profiling

Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique helps...

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

What can exome sequencing do for you?

Jacek Majewski1, Jeremy Schwartzentruber, Emilie Lalonde

  • 1McGill University and Genome Quebec Innovation Centre, Montreal, Canada.

Journal of Medical Genetics
|July 7, 2011
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing, particularly whole exome sequencing, is revolutionizing the investigation of human disorders by enabling cost-effective, deep-coverage genome analysis for gene discovery and personalized medicine.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Last Updated: May 31, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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Published on: June 15, 2011

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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

Area of Science:

  • Genetics
  • Genomics
  • Medical Research

Background:

  • Next-generation sequencing (NGS) technologies have transformed human disease research.
  • Cost-effective, deep-coverage genome-wide data generation is replacing targeted approaches.
  • Whole exome sequencing (WES) offers many advantages of NGS for researchers.

Purpose of the Study:

  • To provide an overview of current and future applications of NGS, specifically WES, in human disease.
  • To discuss the technical capabilities and limitations of WES.
  • To explore the ethical issues associated with WES in genetics and human disease.

Main Methods:

  • Review of recent advances in next-generation sequencing technologies.
  • Focus on whole exome sequencing as a primary tool for genetic investigation.
  • Analysis of technical capabilities, limitations, and ethical considerations.

Main Results:

  • WES has successfully identified genetic defects in various human disorders.
  • The technology is shifting the approach to Mendelian disorders, promising comprehensive variant and gene discovery.
  • Future applications include identifying all personal genome variants and enabling personalized medicine.

Conclusions:

  • WES is a powerful tool for uncovering genetic causes of human diseases.
  • NGS, including WES and whole genome sequencing, is set to significantly impact clinical practice, diagnosis, and disease understanding.
  • Ethical considerations are crucial as genomic technologies advance.