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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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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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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.
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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Una referencia de variación estructural para la genética médica y poblacional

Ryan L Collins1,2,3, Harrison Brand1,2,4, Konrad J Karczewski1,5

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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|May 29, 2020
PubMed
Resumen
Este resumen es generado por máquina.

Un nuevo mapa de referencia de variantes estructurales (SV) de 14.891 genomas revela su papel significativo en la enfermedad y la evolución humana. Este recurso ayuda a la interpretación genética y al cribado diagnóstico.

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Área de la Ciencia:

  • La genómica
  • La genética humana
  • Genética de las poblaciones

Sus antecedentes:

  • Las variantes estructurales (SV) tienen un impacto significativo en la evolución y las enfermedades humanas.
  • La secuenciación del genoma es crucial para los biobancos y las pruebas genéticas.
  • Se carece de un mapa de referencia completo para los SV de genomas de alta cobertura.

Objetivo del estudio:

  • Crear un mapa de referencia de variantes estructurales resueltas por secuencia (SV) utilizando un conjunto de datos de población grande y diverso.
  • Evaluar la contribución de los SV a los eventos raros de truncamiento de proteínas y su relación con la selección natural.
  • Identificar grandes y raros SV y estimar su prevalencia en hallazgos clínicamente significativos.

Principales métodos:

  • Construcción de un mapa de referencia de variante estructural (SV) desde 14.891 genomas en gnomAD.
  • El análisis de 433,371 descubrió SV en diversas poblaciones globales.
  • Análisis de correlación entre las SV, las variantes de un solo nucleótido (SNV) y las presiones de selección natural.

Principales resultados:

  • Descubrimiento de 433.371 variantes estructurales (SV), que revelan un paisaje complejo.
  • Se estima que los SV representan entre el 25 y el 29% de los casos raros de truncamiento de proteínas.
  • Identificación de una selección natural significativa contra los SV dañinos en las regiones de codificación y una selección modesta en los elementos regulatorios.
  • Detección de SVs grandes y raros en el 3,9% de las muestras, con un 0,13% que potencialmente cumple con los criterios para hallazgos clínicos incidentales.

Conclusiones:

  • El nuevo mapa de referencia de SV proporciona un recurso valioso para la genética de poblaciones, estudios de asociación de enfermedades y diagnósticos clínicos.
  • Las variantes estructurales (SV) juegan un papel sustancial en la variación genética y están bajo selección natural.
  • Este recurso, disponible a través del navegador gnomAD, mejorará la interpretación de los datos genómicos y mejorará la detección diagnóstica.