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Related Concept Videos

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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Genomics02:02

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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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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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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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Intrinsically Disordered Proteins02:18

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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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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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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Genome sequencing and implications for rare disorders.

Jennifer E Posey1

  • 1Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, T603, Houston, TX, 77030, USA. jp042803@bcm.edu.

Orphanet Journal of Rare Diseases
|June 26, 2019
PubMed
Summary

Genomic medicine aims to transform healthcare by linking rare genetic variations to health outcomes and Mendelian diseases. Genome sequencing offers advanced insights but requires further research into complex genetic interactions for full clinical utility.

Keywords:
Diagnostic utilityExome sequencingGenome sequencingMendelian conditionsMolecular diagnosesRare diseaseUndiagnosed diseases

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Area of Science:

  • Genomic Medicine
  • Medical Genetics
  • Rare Disease Research

Background:

  • Genomic medicine promises to revolutionize healthcare by understanding the impact of rare genetic variations on individual health and Mendelian diseases.
  • Advancements in genome-wide testing, including chromosomal microarray (CMA) and exome sequencing (ES), have driven rare disease discovery.
  • Genome sequencing (GS) is the latest tool, offering unbiased interrogation of genomic variation with increasing sensitivity.

Purpose of the Study:

  • To explore the potential of genome sequencing (GS) as a clinical diagnostic tool.
  • To investigate the added sensitivity from integrating long-read sequencing or other omics technologies (RNAseq, metabolomics) with GS.
  • To highlight the remaining challenges in understanding genetic heterogeneity and variant impact for clinical application.

Main Methods:

  • Review of existing genomic testing approaches (karyotyping, CMA, ES).
  • Discussion of the capabilities and limitations of current sequencing technologies.
  • Exploration of emerging techniques like long-read sequencing and multi-omics integration.

Main Results:

  • Previous methods like ES and CMA have limitations in detecting specific variants (e.g., triploidy, copy-neutral structural variants).
  • Genome sequencing shows promise for increased variant detection sensitivity, especially when combined with other omics data.
  • Further research is needed to address genetic complexities like allelic heterogeneity and multi-locus variation.

Conclusions:

  • Genome sequencing, particularly with advanced techniques, holds significant potential for clinical molecular diagnostics in genomic medicine.
  • Elucidating complex genetic interactions and improving variant annotation are crucial for realizing the full utility of GS.
  • Continued discovery is essential to fully appreciate and implement the capabilities of genome sequencing in healthcare.