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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.
Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
Evolution of Microbial Genome01:08

Evolution of Microbial Genome

Microbial genome evolution is a highly dynamic process shaped by continual gene gain and loss across species and strains. This genomic flexibility allows microorganisms to adapt rapidly to environmental pressures and interactions with other organisms. Central to understanding this diversity is the distinction between the core and pan genomes.The core genome comprises the genes shared by all sampled strains of a species, representing essential functions needed for fundamental cellular processes.
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.

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Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project
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Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project

Published on: April 8, 2017

What's a Genome Worth?

Isaac S Kohane1, Jay Shendure

  • 1Harvard Medical School Center for Biomedical Informatics and Children's Hospital Informatics Program, Boston, MA 02115, USA.

Science Translational Medicine
|May 11, 2012
PubMed
Summary
This summary is machine-generated.

This study examines how to estimate the clinical usefulness of whole-genome sequencing for patients. It highlights key factors for assessing its current and future applications in healthcare.

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Published on: January 16, 2019

Area of Science:

  • Genomics
  • Clinical Medicine
  • Bioinformatics

Background:

  • Whole-genome sequencing (WGS) offers comprehensive genetic information.
  • Estimating the clinical utility of WGS is complex.
  • Current applications and future potential require careful evaluation.

Purpose of the Study:

  • To explore the considerations involved in estimating the clinical utility of WGS.
  • To provide a framework for assessing the value of WGS in individual patient care.
  • To identify factors influencing the adoption and impact of WGS in clinical settings.

Main Methods:

  • Review of existing literature on WGS clinical utility.
  • Analysis of case studies and expert opinions.
  • Development of a conceptual model for utility estimation.

Main Results:

  • Clinical utility estimation for WGS is multifaceted, involving technical, ethical, and economic factors.
  • Current utility is often limited to rare disease diagnosis and specific cancer applications.
  • Potential utility is high but contingent on improved interpretation, cost-effectiveness, and clinical integration.

Conclusions:

  • Accurate estimation of WGS clinical utility is crucial for its responsible implementation.
  • Further research is needed to refine methods for assessing WGS value.
  • A balanced approach considering benefits, risks, and costs is essential for maximizing WGS impact.