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Related Concept Videos

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.
Genes exist in different versions called alleles, which...
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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
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...
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

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.In the early 20th century,...

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Updated: Jun 4, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Human variation database: an open-source database template for genomic discovery.

Anthony P Fejes1, Alireza Hadj Khodabakhshi, Inanc Birol

  • 1Genome Sciences Centre, BC Cancer Agency, Suite 100 570 West 7th Avenue, Vancouver, British Columbia, Canada V5Z 4S6. afejes@bcgsc.ca

Bioinformatics (Oxford, England)
|March 4, 2011
PubMed
Summary
This summary is machine-generated.

This study introduces an open-source database for next-generation sequencing variations, enabling local installations for secure data analysis and custom querying. Researchers gain control over their genetic variation data without heavy development costs.

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09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Bioinformatics
  • Genomics
  • Computational Biology

Background:

  • Current public variation databases require data sharing and offer limited user control.
  • Researchers need secure, localized solutions for managing next-generation sequencing data.
  • Existing systems necessitate significant investment in resource development.

Purpose of the Study:

  • To provide an open-source, easily installable database for storing and analyzing next-generation sequencing variations.
  • To offer researchers control over their data, enabling local installations and secure information management.
  • To facilitate efficient querying and annotation of genetic variations.

Main Methods:

  • Developed an open-source database using PostgreSQL 8.4.
  • Implemented a novel collation and search method for next-generation sequencing results.
  • Provided a modular, cross-platform Java application programming interface (API) for common functions.

Main Results:

  • The database allows for the storage and analysis of thousands of next-generation sequencing variations.
  • Queries are rapid and insightful, simplifying the annotation of genetic variations.
  • The Java API supports report generation and graphical summaries, with included libraries for custom queries.

Conclusions:

  • The developed open-source database offers a secure and efficient alternative for managing next-generation sequencing variation data.
  • Researchers can establish local database versions, maintaining data confidentiality and control.
  • The system empowers researchers to perform in-depth analysis and custom querying of genetic variation data.