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Counting is the type of measurement that is free from uncertainty, provided the number of objects being counted does not change during the process. Such measurements result in exact numbers. By counting the eggs in a carton, for instance, one can determine exactly how many eggs are there in the carton. Similarly, the numbers of defined quantities are also exact. For example, 1 foot is exactly 12 inches, 1 inch is exactly 2.54 centimeters, and 1 gram is exactly 0.001 kilograms. Quantities...
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Tandem Mass Spectrometry01:21

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Tandem mass spectrometry is a technique that uses multiple mass analyzers in series to obtain a higher selectivity and reduce chemical noise during analyte detection. Instruments with multiple analyzers separated by an interaction cell enable secondary fragmentation and selected study of the fragment ions.Secondary fragmentations occur in the interaction cell and can be induced by various factors. Fragmentation induced by collision with inert gases, such as N2, Ar, He, etc., is called...
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Tomography refers to imaging by sections. Computed tomography (CT) is a non-invasive imaging technique that uses computers to analyze several cross-sectional X-rays to reveal minute details about structures in the body.
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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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Sequences are fundamental mathematical objects consisting of ordered lists of numbers that follow a specific rule or pattern. Sequences are critical in various mathematical concepts, including calculus, series, and number theory. They can model real-world phenomena such as population growth, financial investments, and physical processes like the diminishing height of a bouncing ball.Each number in a sequence is referred to as a term. Typically, the terms are denoted as a1, a2, a3,…, where...
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Peptide Identification Using Tandem Mass Spectrometry01:33

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Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
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Video Experimental Relacionado

Updated: Feb 7, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
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Herramientas computacionales para la detección de repeticiones en tándem mediante secuenciación de lectura larga

Qian Liu1,2, Jincheng Li1

  • 1Nevada Institute of Personalized Medicine, College of Sciences, University of Nevada, Las Vegas, 4505 S Maryland Pkwy, Las Vegas, NV 89154, United States.

Briefings in bioinformatics
|February 5, 2026
PubMed
Resumen
Este resumen es generado por máquina.

Esta revisión examina 39 herramientas computacionales para detectar repeticiones en tándem (TR) mediante secuenciación de lectura larga. Destaca sus fortalezas, limitaciones y direcciones futuras para avanzar en la detección de TR en genómica e investigación de enfermedades.

Palabras clave:
herramientas computacionalessecuenciación de lectura largarepeticiones en tándem

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Área de la Ciencia:

  • Genómica
  • Bioinformática
  • Biología Computacional

Sus antecedentes:

  • Las repeticiones en tándem (TR) son cruciales para las funciones biológicas, pero sus expansiones causan más de 60 enfermedades humanas.
  • La secuenciación de lectura corta tiene dificultades para la detección precisa de regiones TR largas.
  • La secuenciación de lectura larga ofrece una precisión mejorada para la detección de TR en todo el genoma.

Objetivo del estudio:

  • Revisar y categorizar sistemáticamente las herramientas computacionales para la detección de TR a partir de datos de lectura larga.
  • Analizar las fortalezas y limitaciones de las metodologías existentes de detección de TR.
  • Identificar los desafíos actuales y las direcciones futuras de investigación en el campo.

Principales métodos:

  • Revisión sistemática de la literatura y categorización de 39 herramientas computacionales.
  • Análisis de las capacidades de las herramientas para la detección, visualización e interpretación funcional de TR.
  • Evaluación del rendimiento de las herramientas específicamente para datos de secuenciación de lectura larga.

Principales resultados:

  • Se presenta un catálogo completo de 39 herramientas de detección de TR para secuenciación de lectura larga.
  • Se discuten las fortalezas y limitaciones clave de cada herramienta.
  • Se identifican los desafíos actuales en la detección de TR de lectura larga, incluida la precisión y la escalabilidad.

Conclusiones:

  • La secuenciación de lectura larga es esencial para la detección precisa de TR y la comprensión de su papel en la salud y la enfermedad.
  • Se necesita un mayor desarrollo de herramientas computacionales para superar las limitaciones existentes.
  • Los avances en la detección de TR de lectura larga mejorarán la comprensión de la variación genética y los mecanismos de las enfermedades.