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Related Concept Videos

Genomics02:02

Genomics

40.8K
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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Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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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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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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Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes02:16

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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Bone Disorders01:29

Bone Disorders

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
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Updated: Feb 9, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Genomic disorders ten years on.

James R Lupski1

  • 1Departments of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, USA. jlupski@bcm.edu.

Genome Medicine
|May 15, 2009
PubMed
Summary

Human genetic variation largely stems from genomic structural changes, not just DNA base-pair alterations. These structural variations define genomic disorders and are increasingly understood through advanced genome analysis, impacting genome medicine.

Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Human genetic variation is increasingly attributed to large-scale structural genomic changes rather than single base-pair mutations.
  • Structural alterations in the genome are known to cause specific clinical phenotypes and influence disease susceptibility.
  • Genomic disorders represent a category of human conditions arising from these structural genomic alterations.

Purpose of the Study:

  • To highlight the significance of structural genomic variations in human genetic diversity.
  • To underscore the role of structural genomic changes in the etiology of genomic disorders.
  • To emphasize the impact of technological advancements on the study and clinical application of genomic disorders.

Main Methods:

  • Review of current understanding of human genetic variation.

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  • Analysis of the relationship between structural genomic alterations and clinical phenotypes.
  • Examination of the role of evolving high-resolution genome analysis technologies.

    • Main Results:

    • Structural genomic changes are a major source of human genetic variation.
    • These structural changes are directly linked to the definition and understanding of genomic disorders.
    • Advancements in genome analysis technologies are crucial for identifying and characterizing these variations.

    Conclusions:

    • Structural genomic variations are fundamental to understanding human genetic diversity and disease.
    • The study of genomic disorders is intrinsically linked to progress in genome analysis technologies.
    • High-resolution genome analysis is driving the clinical implementation of genomic discoveries in genome medicine.