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Genetic Variation01:25

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic

Wenbo Mu1, Bing Li1, Sitao Wu1

  • 1Ambry Genetics, Aliso Viejo, CA 92656, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|December 20, 2018
PubMed
Summary

Next-generation sequencing (NGS) demonstrates high accuracy for detecting structural variations (SVs) linked to inherited diseases. This study validates NGS as a powerful tool for clinical genetic testing, ensuring reliable diagnoses and patient care.

Keywords:
CNVaCGHgenetic diagnostic testingnext-generation sequencingstructural variation

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Area of Science:

  • Genomics
  • Medical Genetics
  • Bioinformatics

Background:

  • Structural variations (SVs) are implicated in inherited diseases.
  • Next-generation sequencing (NGS) offers high-throughput, cost-effective SV detection with base-pair resolution.
  • Standardized protocols and sufficient clinical data for SV detection and interpretation are currently lacking.

Purpose of the Study:

  • To assess the efficacy of NGS for structural variation (SV) detection in a large cohort of clinical samples.
  • To establish comprehensive standards for SV detection, interpretation, and reporting using NGS data.
  • To evaluate the performance of NGS compared to orthogonal methods for SV identification.

Main Methods:

  • SV assessment was conducted on 60,000 clinical samples using hereditary cancer NGS panels (48 genes).
  • NGS and orthogonal methods were employed independently and in a blinded manner for SV detection.
  • Validated SVs included those in coding sequences (CDS), untranslated regions (UTRs), and introns.

Main Results:

  • A total of 1,037 SVs in CDS/UTRs and 30,847 SVs in introns were detected and validated.
  • NGS achieved 100% sensitivity and 99.9% specificity for SV detection across all variant types.
  • 64% of CDS/UTR SVs were classified as pathogenic/likely pathogenic, with five deletions/duplications reclassified as pathogenic using NGS breakpoint data.

Conclusions:

  • The identified SVs serve as a valuable resource for clinical research and diagnostics.
  • NGS is confirmed as a powerful and accurate tool for structural variation detection in clinical settings.
  • The integration of NGS and confirmation technologies enhances the accuracy and reliability of genetic testing for patient care.