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Related Concept Videos

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...
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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.
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...
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.
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...
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...

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Related Experiment Video

Updated: May 29, 2026

Introductory Analysis and Validation of CUT&RUN Sequencing Data
04:58

Introductory Analysis and Validation of CUT&RUN Sequencing Data

Published on: December 13, 2024

Genome, and beyond. Findings from the section on bioinformatics.

Y L Yip1

  • 1Merck Serono International S.A., Geneva, Switzerland. lina.yip.sonderegger@merckserono.net

Yearbook of Medical Informatics
|September 23, 2011
PubMed
Summary

Bioinformatics research is advancing personalized medicine by integrating genomic, environmental, and epigenetic data. New web-based frameworks are enabling a deeper understanding of human phenotype and disease beyond genetics alone.

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A Bioinformatics Pipeline for Investigating Molecular Evolution and Gene Expression using RNA-seq
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Area of Science:

  • Bioinformatics
  • Computational Biology
  • Genomics

Background:

  • The field of bioinformatics is rapidly evolving.
  • Advancements in bioinformatics have direct applications in medicine.

Purpose of the Study:

  • To summarize key research in bioinformatics with medical applications.
  • To highlight progress in understanding human phenotype and disease.

Main Methods:

  • Synopsis of selected articles from the IMIA Yearbook 2011.
  • Review of cutting-edge bioinformatics research.

Main Results:

  • Six key articles were selected, showcasing progress in human phenotype understanding.
  • The year 2010 saw the first clinical use of a complete human genome, advancing personalized medicine.
  • Research is increasingly incorporating environmental and epigenetic factors beyond the genome.
  • A novel web-based framework for genotype-phenotype data collection was introduced, leveraging social media.

Conclusions:

  • Current literature provides the foundation for a comprehensive understanding of human diseases and traits.
  • The integration of multi-level data (genomic, environmental, epigenetic) is crucial.
  • Future research will move beyond purely genetic studies for a holistic view.