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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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Genomic DNA in Prokaryotes00:46

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The genome of most prokaryotic organisms consists of double-stranded DNA organized into one circular chromosome in a region of cytoplasm called the nucleoid. The chromosome is tightly wound, or supercoiled, for efficient storage. Prokaryotes also contain other circular pieces of DNA called plasmids. These plasmids are smaller than the chromosome and often carry genes that confer adaptive functions, such as antibiotic resistance.
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Genomic DNA in Eukaryotes00:58

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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.
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Chirality02:25

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Chirality is a term that describes the lack of mirror symmetry in an object. In other words, chiral objects cannot be superposed on their mirror images. For example, our feet are chiral, as the mirror image of the left foot, the right foot, cannot be superposed on the left foot.
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Chirality in Nature02:30

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Chirality is the most intriguing yet essential facet of nature, governing life’s biochemical processes and precision. It can be observed from a snail shell pattern in a macroscopic world to an amino acid, the minutest building block of life. Most of the snails around the world have right-coiled shells because of the intrinsic chirality in their genes. All the amino acids present in the human body exist in an enantiomerically pure state, except for glycine - the sole achiral amino acid.
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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.
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Chiral DNA sequences as commutable controls for clinical genomics.

Ira W Deveson1,2, Bindu Swapna Madala3, James Blackburn3,4

  • 1Garvan Institute of Medical Research, Sydney, 2010, NSW, Australia. i.deveson@garvan.org.au.

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Summary

Chiral DNA sequences, mirroring genomic regions, perform equivalently in genetic analyses. Synthetic chiral sequences (sequins) can improve diagnostic accuracy by serving as internal controls in precision medicine.

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Area of Science:

  • Molecular Biology
  • Genomics
  • Bioinformatics

Background:

  • Chirality describes objects inequivalent to their mirror image.
  • DNA sequences possess inherent chirality due to their 5'-3' directionality.
  • Chiral DNA pairs share properties like nucleotide composition and sequence entropy.

Purpose of the Study:

  • To demonstrate the equivalent performance of chiral DNA sequence pairs in molecular and bioinformatic techniques.
  • To validate synthetic chiral sequences (sequins) as ideal controls for clinical genomics.
  • To propose sequins for improving diagnostic accuracy in precision medicine.

Main Methods:

  • Evaluation of chiral DNA sequence pair performance in PCR amplification and hybridization.
  • Assessment of performance in whole-genome, target-enriched, and nanopore sequencing.
  • Analysis of sequence alignment and variant detection capabilities with chiral sequences.

Main Results:

  • Chiral DNA sequence pairs demonstrated equivalent performance across various genetic analysis techniques.
  • Synthetic chiral sequences (sequins) showed suitability as controls for clinically relevant genomic regions.
  • The addition of sequins to tumor samples has the potential to mitigate false positives and negatives.

Conclusions:

  • Chiral DNA sequences exhibit functional equivalence in key genetic analysis methods.
  • Synthetic chiral sequences (sequins) are proposed as commutable internal controls for precision medicine.
  • Sequins can enhance the reliability of mutation detection and improve diagnostic outcomes.