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Updated: Jun 11, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genomics through the lens of next-generation sequencing
John A Capra1, Lucia Carbone, Samantha J Riesenfeld
1Gladstone Institute of Cardiovascular Disease, University of California San Francisco, 1650 Owens Street, San Francisco, CA 94158, USA.
Genome Biology
|July 1, 2010
Summary
The 23rd annual meeting on The Biology of Genomes covered advancements in genomic research. Key discussions focused on the latest discoveries and future directions in understanding complex biological systems.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- The annual meeting on 'The Biology of Genomes' serves as a premier forum for researchers.
- It convenes leading scientists to discuss cutting-edge advancements in the field.
Purpose of the Study:
- To report on the key themes and findings presented at the 23rd annual meeting.
- To highlight significant progress in genome biology and related disciplines.
Main Methods:
- Summaries of presentations and discussions from the meeting.
- Synthesis of information shared by experts in various genomic fields.
Main Results:
- The meeting showcased progress in areas such as genome sequencing, gene regulation, and comparative genomics.
- Emerging trends in the application of genomic data to understand disease and evolution were discussed.
Conclusions:
- The 23rd meeting underscored the rapid pace of discovery in genome biology.
- Future research directions emphasize interdisciplinary approaches and large-scale data analysis.
Related Concept Videos
03:00Next-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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
02:02Genomics
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03:21RNA-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...
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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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Challenges of the Maxam-Gilbert Method
The...