Jove
Visualize
Contáctanos
JoVE
x logofacebook logolinkedin logoyoutube logo
ACERCA DE JoVE
Visión GeneralLiderazgoBlogCentro de Ayuda JoVE
AUTORES
Proceso de PublicaciónConsejo EditorialAlcance y PolíticasRevisión por ParesPreguntas FrecuentesEnviar
BIBLIOTECARIOS
TestimoniosSuscripcionesAccesoRecursosConsejo Asesor de BibliotecasPreguntas Frecuentes
INVESTIGACIÓN
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchivo
EDUCACIÓN
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualCentro de Recursos para ProfesoresSitio de Profesores
Términos y Condiciones de Uso
Política de Privacidad
Políticas

Videos de Conceptos Relacionados

Genetic Variation01:25

Genetic Variation

1.6K
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.
Genes exist in different versions called alleles,...
1.6K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

66.0K
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).
66.0K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

98
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
98
What is Population Genetics?01:25

What is Population Genetics?

65.9K
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.
65.9K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.3K
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%...
19.3K
Human Genetics01:28

Human Genetics

1.9K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por
Same author

Population-scale repeat expansions elucidate disease risk and brain atrophy.

Nature·2026
Same author

Genetic predictors of GLP1 receptor agonist weight loss and side effects.

Nature·2026
Same author

Large language models identify causal genes in complex trait GWAS.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing·2026
Same author

Integrating Polygenic Risk Improves Generative Forecasting of Disease Trajectories.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing·2026
Same author

A resource of "bottom-line" variant associations for 1,281 complex traits by integrating data across published genome-wide association studies.

Research square·2026
Same author

Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery.

Genetic epidemiology·2025
Same journal

Six ways to put the public at the heart of science and policy.

Nature·2026
Same journal

The complex truth about trust in science.

Nature·2026
Same journal

Have people stopped trusting science? The data tell a surprising story.

Nature·2026
Same journal

How FAIR data are helping to build trust in science.

Nature·2026
Same journal

Scientists should recognize their own political biases to build public trust.

Nature·2026
Same journal

Harmonizing standards and resources for the medical genome.

Nature·2026
Ver todos los artículos relacionados

Video Experimental Relacionado

Updated: Apr 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Una referencia global para la variación genética humana

, Adam Auton, Lisa D Brooks

    Nature
    |October 4, 2015
    PubMed
    Resumen
    Este resumen es generado por máquina.

    El Proyecto 1000 Genomas mapeó más de 88 millones de variantes genéticas humanas en 2.504 individuos de 26 poblaciones. Este amplio recurso de variación genética humana ayuda a futuros estudios de enfermedades comunes.

    Más Videos Relacionados

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
    14:06

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

    Published on: June 23, 2012

    15.8K
    Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
    08:35

    Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

    Published on: July 17, 2021

    23.6K

    Videos de Experimentos Relacionados

    Last Updated: Apr 1, 2026

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
    07:15

    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

    Published on: January 16, 2019

    11.5K
    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
    14:06

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

    Published on: June 23, 2012

    15.8K
    Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
    08:35

    Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

    Published on: July 17, 2021

    23.6K

    Área de la Ciencia:

    • La genómica
    • La genética humana
    • La bioinformática

    Sus antecedentes:

    • Comprender la variación genética humana es crucial para la investigación biomédica.
    • Los esfuerzos anteriores proporcionaron un alcance limitado de variantes comunes.
    • El Proyecto 1000 Genomas tenía como objetivo crear un catálogo completo.

    Objetivo del estudio:

    • Describir exhaustivamente la variación genética humana común.
    • Para reconstruir y analizar genomas de diversas poblaciones globales.
    • Proporcionar un recurso de haplotipo por fases de alta calidad.

    Principales métodos:

    • Secuenciación de todo el genoma (baja cobertura).
    • Secuenciación del exoma (cobertura profunda).
    • El genotipo de microarray denso.
    • Análisis bioinformático y variante llamada.
    • La fase del haplotipo.

    Principales resultados:

    • Reconstrucción de los genomas de 2.504 individuos de 26 poblaciones.
    • Caracterización de más de 88 millones de variantes genéticas (SNP, indels, variantes estructurales).
    • Identificación de más del 99% de las variantes SNP con una frecuencia de más del 1% en todas las ascendencias.
    • Phasing de las variantes en haplotipos de alta calidad.

    Conclusiones:

    • El Proyecto 1000 Genomas creó con éxito un recurso integral de variación genética humana.
    • Los datos proporcionan una visión sin precedentes de la distribución de las variantes en las poblaciones globales.
    • Este recurso tiene implicaciones significativas para la comprensión de la base genética de las enfermedades comunes.