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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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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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Mutations01:39

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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Sometimes waves do not seem to move; rather, they just vibrate in place. Unmoving waves can be seen on the surface of a glass of milk kept in a refrigerator, which is one example of standing waves. Vibrations from the refrigerator motor create waves on the milk that oscillate up and down but do not seem to move across the surface. These waves are formed or created by the superposition of two or more identical moving waves in opposite directions. The waves move through each other, with their...
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D3Oncoprint: Stand-Alone Software to Visualize and Dynamically Explore Annotated Genomic Mutation Files.

Alida Palmisano1, Yingdong Zhao1, Richard M Simon1

  • 1All authors: National Cancer Institute, Rockville, MD.

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|January 18, 2019
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Summary
This summary is machine-generated.

D3Oncoprint is a free, standalone application that visualizes genomic mutation data for biomedical researchers. It enables interactive exploration of complex genomic datasets on local machines without requiring programming skills, facilitating biologic discovery and patient management.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Cancer Research

Background:

  • Next-generation sequencing has increased genomic data availability, necessitating efficient analysis tools.
  • Current genomic analysis tools often require advanced programming skills or external web services, creating barriers for researchers.
  • Effective visualization and analysis are crucial for translating genomic data into biologic insights and clinical applications.

Purpose of the Study:

  • To develop a user-friendly, standalone application for interactive genomic data exploration on local machines.
  • To lower the barriers for biomedical researchers in analyzing complex genomic mutation data.
  • To facilitate the use of genomic data for biologic discovery and patient management.

Main Methods:

  • Developed D3Oncoprint, a standalone application for visualizing and exploring annotated genomic mutation files.
  • Integrated links to curated variant lists (CIViC, My Cancer Genome, OncoKB) and FDA-approved drugs.
  • Included curated gene lists from BioCarta pathways and FoundationOne cancer panels for exploring biologic processes.

Main Results:

  • D3Oncoprint provides a flexible environment for dynamic exploration of genomic mutation profiles.
  • The software facilitates interactive visualization with integrated biologic and medical annotations.
  • Researchers can explore their own genomic data without extensive computational expertise.

Conclusions:

  • D3Oncoprint empowers researchers to translate genomic data into biologic insights and clinical development.
  • The tool significantly lowers barriers for biomedical investigators working with complex genomics data.
  • D3Oncoprint is freely available for noncommercial use, promoting wider accessibility.