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Related Concept Videos

Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

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Genetic evolution in chronic lymphocytic leukaemia.

Julio Delgado1, Neus Villamor2, Armando López-Guillermo3

  • 1Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Calle Roselló 149-153, 08036 Barcelona, Spain; Department of Haematology, Hospital Clínic, Calle Villarroel 170, 08036 Barcelona, Spain.

Best Practice & Research. Clinical Haematology
|October 16, 2016
PubMed
Summary

Next-generation sequencing reveals key genomic and epigenomic drivers of chronic lymphocytic leukaemia (CLL). Understanding these drivers offers new therapeutic targets and strategies to prevent treatment resistance in CLL patients.

Keywords:
CLLClonal evolutionEpigenomicsGenomicsNGSNon-coding

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Area of Science:

  • Oncology
  • Genomics
  • Epigenetics

Background:

  • Chronic lymphocytic leukaemia (CLL) is a malignancy with complex genomic and epigenomic underpinnings.
  • Recent advancements in sequencing technologies have enabled deeper investigation into the molecular basis of CLL.

Purpose of the Study:

  • To comprehensively understand the genomic, epigenomic, and transcriptomic landscape of CLL.
  • To identify novel drivers and pathways involved in CLL pathogenesis.
  • To explore potential therapeutic strategies based on molecular findings.

Main Methods:

  • Utilizing next-generation sequencing (NGS) for comprehensive genomic, epigenomic, and transcriptomic analysis.
  • Analyzing mutations in both coding and non-coding regions.
  • Investigating signalling pathways implicated in CLL.

Main Results:

  • Identification of novel genetic drivers, including non-coding mutations.
  • Elucidation of signalling pathways previously unappreciated in CLL.
  • Establishment of the cellular origins of CLL through epigenomic and transcriptomic data.
  • Discovery of potential therapeutic targets for CLL management.

Conclusions:

  • Next-generation sequencing provides critical insights into CLL biology.
  • Targeting identified drivers and pathways may lead to novel therapeutic interventions.
  • Early detection of subclones could prevent disease refractoriness and improve patient outcomes.