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Videos de Conceptos Relacionados

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...

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Specificity of CRISPR-Cas9 Editing in Exagamglogene Autotemcel - Update.

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Video Experimental Relacionado

Updated: Jun 28, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

El mapeo genético en enfermedades humanas.

David Altshuler1, Mark J Daly, Eric S Lander

  • 1Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. altshuler@molbio.mgh.harvard.edu

Science (New York, N.Y.)
|November 8, 2008
PubMed
Resumen

El mapeo genético identifica genes para rasgos y enfermedades heredadas. Esta revisión cubre los rasgos mendelianos y complejos, el análisis de enlaces y los estudios de asociación de todo el genoma para futuras direcciones de investigación.

Área de la Ciencia:

  • Genética La genética.
  • Biología Humana Biología Humana.
  • La bioinformática es la bioinformática.

Sus antecedentes:

  • El mapeo genético es crucial para comprender los rasgos y enfermedades influenciadas por la herencia.
  • Ayuda a identificar genes específicos y las vías biológicas involucradas.

Objetivo del estudio:

  • Revisar los fundamentos del mapeo genético para los rasgos humanos mendelianos y complejos.
  • Para analizar las lecciones del análisis de enlaces y los estudios de asociación de todo el genoma.
  • Identificar futuros desafíos y preguntas de investigación en el mapeo genético.

Principales métodos:

  • Revisión de los fundamentos intelectuales del mapeo genético.
  • Examen del análisis de vínculos para las enfermedades mendelianas.

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  • Análisis de estudios de asociación de todo el genoma para enfermedades comunes.

    • Principales resultados:

    • Principios establecidos de mapeo genético para rasgos humanos.
    • Perspectivas de aplicaciones exitosas en enfermedades mendelianas y complejas.
    • Se identificaron áreas clave para futuras investigaciones.

    Conclusiones:

    • El mapeo genético es una herramienta vital para diseccionar la base genética de los rasgos y enfermedades humanas.
    • Los estudios anteriores proporcionan una base sólida para la investigación genética futura.
    • Los desafíos actuales requieren enfoques innovadores en el análisis genético.