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Related Concept Videos

Genomics02:02

Genomics

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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...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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...
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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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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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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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Practical guide for managing large-scale human genome data in research.

Tomoya Tanjo1, Yosuke Kawai2, Katsushi Tokunaga2

  • 1National Institute of Informatics, Tokyo, 101-8430, Japan.

Journal of Human Genetics
|October 24, 2020
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Summary
This summary is machine-generated.

This review guides researchers on processing and analyzing large-scale human genome sequencing data. It covers data formats, computational platforms, and ethical considerations for reproducible and scalable genomic research.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Human genetics research generates vast amounts of genome sequencing data.
  • Efficient management and analysis of this data are crucial for research productivity.
  • Existing bioinformatics tools require guidance for processing large-scale genomic datasets.

Purpose of the Study:

  • To provide a comprehensive guide for researchers on processing and analyzing large-scale human genome sequencing data.
  • To highlight strategies for data management, computational platforms, and ethical considerations.
  • To improve downstream analyses and ensure data reproducibility and scalability.

Main Methods:

  • Review of worldwide human genome projects and data integration strategies.
  • Discussion on data formats and software for whole-genome sequencing manipulation.
  • Exploration of multi-cloud strategies for computational platforms.
  • Introduction to computer science technologies like workflow engines for data reproducibility.
  • Examination of ethical guidelines specific to human genomic data analysis.

Main Results:

  • Identification of key technologies and strategies for efficient large-scale genomic data processing.
  • Recommendations for selecting appropriate data formats, software, and computational platforms.
  • Emphasis on the importance of data reproducibility, reusability, and scalability.
  • Overview of ethical considerations unique to human genomic data.

Conclusions:

  • Effective processing and analysis of human genome data require careful selection of tools, platforms, and adherence to ethical guidelines.
  • Implementing strategies for data management and computational infrastructure ensures reproducible and scalable research.
  • This guide aims to empower researchers to navigate the complexities of large-scale genomic data analysis.