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Genomics02:02

Genomics

35.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
35.5K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

7.8K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.8K
Genetic Screens02:46

Genetic Screens

4.6K
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...
4.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.6K
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...
12.6K
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

253
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
253
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

121
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...
121

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Video Experimental Relacionado

Updated: May 3, 2026

iCLIP - Transcriptome-wide Mapping of Protein-RNA Interactions with Individual Nucleotide Resolution
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GREGoR: Aceleración de la genómica para las enfermedades raras

Moez Dawood1,2,3, Ben Heavner4, Marsha M Wheeler4

  • 1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. mdawood@bcm.edu.

Nature
|November 12, 2025
PubMed
Resumen
Este resumen es generado por máquina.

El Consorcio de Investigación Genómica para elucidar la genética de las enfermedades raras (GREGoR) acelera el diagnóstico de enfermedades raras mediante la aplicación y estandarización de tecnologías genómicas. Esta iniciativa proporciona conjuntos de datos cruciales para avanzar en el diagnóstico genético de casos de enfermedades raras sin resolver a nivel mundial.

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Área de la Ciencia:

  • La genómica
  • Enfermedades raras
  • La genética médica

Sus antecedentes:

  • Las enfermedades raras afectan a aproximadamente 1 de cada 20 personas en todo el mundo, lo que plantea importantes desafíos de diagnóstico.
  • A pesar de los avances en la secuenciación de próxima generación, más de la mitad de los casos sospechosos de enfermedades raras siguen sin diagnosticarse.
  • Las pruebas genéticas clínicas existentes a menudo no identifican las variantes genéticas causantes en pacientes con enfermedades raras.

Objetivo del estudio:

  • Establecer un marco de colaboración para el estudio de casos difíciles de enfermedades raras.
  • Aplicar, estandarizar y evaluar las tecnologías genómicas emergentes para el diagnóstico de enfermedades raras.
  • Acelerar la adopción clínica de enfoques genómicos avanzados para enfermedades raras.

Principales métodos:

  • El Consorcio de Investigación Genómica para elucidar la genética de las enfermedades raras (GREGoR) estudió miles de casos y familias de enfermedades raras.
  • Utilizó tecnologías genómicas avanzadas y análisis computacional para priorizar genes y variantes.
  • Ha puesto a disposición una gran cantidad de datos clínicos y genéticos a través del Laboratorio de Análisis, Visualización e Informática (AnVIL).

Principales resultados:

  • Generó conjuntos de datos genómicos completos de más de 7.500 individuos en 3.000 familias.
  • Se han identificado posibles diagnósticos genéticos para casos de enfermedades raras no resueltos anteriormente.
  • Estableció un recurso fundamental para la investigación genómica de enfermedades raras.

Conclusiones:

  • El Consorcio GREGoR proporciona recursos y conjuntos de datos críticos para avanzar en el diagnóstico de enfermedades raras.
  • La estandarización de las tecnologías genómicas y el intercambio de datos es clave para resolver casos difíciles de enfermedades raras.
  • Esta iniciativa cataliza los esfuerzos mundiales para mejorar los diagnósticos genéticos de enfermedades raras.