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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 Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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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pH Scale02:41

pH Scale

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Hydronium and hydroxide ions are present both in pure water and in all aqueous solutions, and their concentrations are inversely proportional as determined by the ion product of water (Kw). The concentrations of these ions in a solution are often critical determinants of the solution’s properties and the chemical behaviors of its other solutes. Two different solutions can differ in their hydronium or hydroxide ion concentrations by a million, billion, or even trillion times. A common means of...
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Psychodynamic Perspectives on Personality01:27

Psychodynamic Perspectives on Personality

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The psychodynamic perspective in psychology asserts that most personality functions operate unconsciously, outside of awareness. This means that the motives and emotions driving behavior often remain hidden, automatically buried in the unconscious mind as a defense mechanism to shield us from psychological distress. According to this theory, the unconscious mind contains thoughts, memories, and emotions that are too disturbing to face directly.
Psychodynamic theorists argue that unconscious...
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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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Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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Future perspectives of genome-scale sequencing.

Wouter Steyaert1,2, Steven Callens3,2, Paul Coucke1,2

  • 1a Center for Medical Genetics , Ghent University Hospital , Ghent , Belgium.

Acta Clinica Belgica
|February 1, 2018
PubMed
Summary
This summary is machine-generated.

Genetic technologies like whole exome and whole genome sequencing revolutionize diagnostics. These advanced methods provide faster, more accurate diagnoses, improving patient care and healthcare efficiency.

Keywords:
Rare diseasesnext-generation sequencingwhole exome sequencingwhole genome sequencing

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Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Genetic Technology

Background:

  • Genetic analysis has evolved significantly over the past two decades.
  • Historically, gene analysis was time-consuming and limited to specific genes.
  • Modern genetic technology enables comprehensive genomic analysis in clinical settings.

Purpose of the Study:

  • To review the application of advanced genetic sequencing technologies in clinical diagnostics.
  • To highlight the impact of whole exome and whole genome sequencing on diagnostic capabilities.

Main Methods:

  • Review of current literature and clinical applications of genetic sequencing.
  • Analysis of the transition from single-gene testing to whole exome and whole genome sequencing.

Main Results:

  • Whole exome sequencing is a cost- and time-efficient diagnostic tool, particularly for complex cases with phenotypic heterogeneity.
  • Decreasing sequencing costs are paving the way for widespread adoption of whole genome sequencing.
  • These technologies significantly enhance the speed and accuracy of genetic diagnoses.

Conclusions:

  • Technological advancements have transformed clinical diagnostics.
  • Whole exome and whole genome sequencing increase diagnostic yield, benefiting patients and healthcare systems.
  • The evolution of genetic sequencing promises further improvements in diagnostic quality.