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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...
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...
Human Virome01:26

Human Virome

The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
Genetic Variation01:25

Genetic Variation

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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Genomics02:02

Genomics

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...
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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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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

GENÉTICAS. por ejemplo. El Proyecto Varioma Humano.

Richard G H Cotton1, Arleen D Auerbach, Myles Axton

  • 1Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia. cotton@unimelb.edu.au

Science (New York, N.Y.)
|November 8, 2008
PubMed
Resumen
Este resumen es generado por máquina.

Una nueva iniciativa consiste en recopilar y organizar datos sobre las variaciones genéticas que afectan a la salud humana. Esta valiosa información se está volviendo más accesible para los investigadores de todo el mundo.

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Área de la Ciencia:

  • Genética La genética.
  • La bioinformática es la bioinformática.
  • La medicina genómica es la medicina genómica.

Sus antecedentes:

  • Las variaciones genéticas son cruciales para comprender la salud humana y las enfermedades.
  • Los esfuerzos anteriores para consolidar estos datos han sido fragmentados.
  • Se necesita un recurso integral para acelerar la investigación.

Objetivo del estudio:

  • Establecer un repositorio centralizado y accesible para los datos de variación genética.
  • Facilitar el estudio de las relaciones genotipo-fenotipo.
  • Para apoyar las iniciativas de medicina de precisión.

Principales métodos:

  • Desarrollar tuberías robustas de recopilación y curación de datos.
  • Implementación de formatos de datos estandarizados y ontologías.
  • Creación de plataformas fáciles de usar para el acceso y análisis de datos.

Principales resultados:

  • Se han logrado avances significativos en la adquisición e integración de datos.
  • El conjunto de datos inicial incluye un número creciente de variaciones genéticas.
  • Los primeros comentarios de los usuarios indican la utilidad de la plataforma.

Conclusiones:

  • El plan para crear una base de datos completa de variación genética está progresando.
  • Este recurso promete ser un activo valioso para la comunidad científica.
  • El aumento de la accesibilidad de los datos genéticos impulsará la investigación en salud hacia adelante.