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Videos de Conceptos Relacionados

What is Variation?01:14

What is Variation?

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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
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Variation01:19

Variation

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An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
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Variation of Atmospheric Pressure01:18

Variation of Atmospheric Pressure

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Change in atmospheric pressure with height is particularly interesting. The decrease in atmospheric pressure with increasing altitude is due to the decreasing gravitational force per unit area as we move away from the surface of the earth.
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Coefficient of Variation01:10

Coefficient of Variation

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The coefficient of variation measures the dispersion of the data points or distribution around the mean. Using the coefficient of variation, we can compare two data series with drastically different means or different units of measurement. The coefficient of variation for a sample and a population is expressed as a percentage of the ratio of standard deviation to the mean.
The coefficient of variation is a practical statistical tool in finance. It allows investors to assess the volatility or...
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Video Experimental Relacionado

Updated: Jan 28, 2026

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches
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La hipermutación de longitud de megabases acompaña a la variación estructural humana en 17p11.2

Christine R Beck1, Claudia M B Carvalho1, Zeynep C Akdemir1

  • 1Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.

Cell
|March 5, 2019
PubMed
Resumen

Este estudio revela que la replicación inducida por ruptura mediada por microhomología (MMBIR) causa variantes estructurales (SV) en el genoma humano. MMBIR conduce a mutaciones cerca de los sitios de reordenamiento, que afectan a los genes.

Palabras clave:
Número de unidades de producciónReparación del ADNreorganizaciones complejasCaracterización genómicaTrastornos genómicossecuenciación de larga lecturael paso por etapas

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Variations on Negative Stain Electron Microscopy Methods: Tools for Tackling Challenging Systems
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Videos de Experimentos Relacionados

Last Updated: Jan 28, 2026

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Área de la Ciencia:

  • La genética
  • La genómica
  • Biología molecular

Sus antecedentes:

  • Las variantes estructurales (SV) en el genoma humano surgen de varios procesos mutacionales.
  • Comprender los mecanismos detrás de las reorganizaciones de novo es crucial para descifrar la inestabilidad del genoma.

Objetivo del estudio:

  • Investigar los mecanismos moleculares subyacentes a las reorganizaciones de nuevo del cromosoma 17p11.2.
  • Analizar los eventos de formación de variantes estructurales recurrentes y no recurrentes.

Principales métodos:

  • Utilizó tecnologías de secuenciación de lectura larga y corta.
  • Productos finales analizados de las reorganizaciones de novo del cromosoma 17p11.2.

Principales resultados:

  • Se observó un aumento de la tasa de mutaciones agrupadas de variante de un solo nucleótido (SNV) asociadas con reordenamientos no recurrentes.
  • Se encontró que la formación de indel y SNV ocurre hasta ~ 1 Mb desde las uniones de punto de ruptura tanto en ganancias como en pérdidas de número de copias.
  • Se identificó una preferencia por las sustituciones de transversión C > G, lo que sugiere la participación de un solo hilo de ADN.
  • Proporcionó pruebas sólidas que apoyan el mecanismo de replicación inducida por ruptura por microhomología (MMBIR) para la formación de SV.
  • Se detectó una carga de hipermutación localizada de MMBIR, que se manifiesta como SNV y indels principalmente dentro de los genes.

Conclusiones:

  • El mecanismo de replicación inducida por ruptura mediada por microhomología (MMBIR) contribuye significativamente a la formación de variantes estructurales.
  • MMBIR impone una carga mutacional adicional, caracterizada por la hipermutación localizada (SNV y indels) dentro de los genes.