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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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Inertial Frames of Reference01:03

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Newton’s first law is usually considered to be a statement about reference frames. It provides a method for identifying a special type of reference frame: the inertial reference frame. In principle, we can make the net force on a body zero. If its velocity relative to a given frame is constant, then that frame is said to be inertial. So, by definition, an inertial reference frame is a reference frame where Newton's first law holds valid. Newton's first law applies to objects with...
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Non-inertial Frames of Reference01:27

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A reference frame accelerating or decelerating relative to an inertial frame is a non-inertial frame. To help understand this, consider what taking off in an airplane, turning a corner in a car, riding a merry-go-round, and the circular motion of a tropical cyclone all have in common. All these systems are accelerating, decelerating, or rotating relative to the Earth; hence, they all are non-inertial frames. All these systems exhibit inertial forces, which merely seem to arise from motion,...
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Chemical Shift: Internal References and Solvent Effects01:17

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In an NMR sample, precise measurement of the absolute absorption frequencies of nuclei is difficult. A standard internal reference compound is added, and the frequency difference between the reference signal and sample signals is measured.
The internal reference compound generally used in NMR spectroscopy is tetramethylsilane (TMS). TMS is preferred because it is chemically inert, soluble in NMR solvents, and easily removable. Also, the highly shielded methyl protons in TMS yield an intense...
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Genomic Imprinting and Inheritance02:30

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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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Genome Size and the Evolution of New Genes03:21

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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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Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example
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One reference genome is not enough.

Xiaofei Yang1,2,3, Wan-Ping Lee2,3,4, Kai Ye2,5

  • 1Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, 710049, China.

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|May 26, 2019
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Summary
This summary is machine-generated.

The current human reference genome has errors, necessitating a more comprehensive human pan-genome. This updated genome will improve our understanding of human structural variation and genetic diversity.

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Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • The human reference genome (GRCh38) is a foundational resource in genomics.
  • Structural variations are crucial for understanding human diversity and disease.
  • Existing reference genomes have limitations in capturing the full spectrum of human genetic variation.

Purpose of the Study:

  • To evaluate the completeness and accuracy of the current human reference genome (GRCh38).
  • To highlight the insufficiencies and errors within GRCh38 concerning human structural variation.
  • To advocate for the development of a human pan-genome.

Main Methods:

  • Comparative analysis of structural variations.
  • Assessment of GRCh38's representation of known structural variants.
  • Literature review on genome assembly and variation.

Main Results:

  • Identified significant insufficiencies and errors in the GRCh38 human reference genome.
  • Demonstrated that GRCh38 does not adequately represent the full scope of human structural variation.
  • Highlighted specific types of structural variations that are poorly captured.

Conclusions:

  • GRCh38 is insufficient for comprehensive studies of human structural variation.
  • A human pan-genome, encompassing diverse genetic sequences, is required.
  • Developing a pan-genome will enhance genomic research and applications.