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Related Concept Videos

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...
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...
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Bioinformatics for personal genome interpretation.

Emidio Capriotti1, Nathan L Nehrt, Maricel G Kann

  • 1Department of Mathematics and Computer Science, University of Balearic Islands, ctra. de Valldemossa Km 7.5, Palma de Mallorca, 07122 Spain. emidio.capriotti@uib.es

Briefings in Bioinformatics
|January 17, 2012
PubMed
Summary
This summary is machine-generated.

Researchers are reviewing key databases and bioinformatics tools to interpret the human variome, aiming to link genetic variations to specific traits and diseases for better understanding of genotype-phenotype relationships.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • The first draft of the human genome sequence was released a decade ago.
  • Understanding the genotype-phenotype relationship remains a challenge despite genetic insights into diseases.
  • Current research focuses on evaluating genetic predispositions to phenotypic traits.

Purpose of the Study:

  • To review significant databases and bioinformatics tools for human variome interpretation.
  • To highlight resources for identifying and annotating genes and variants associated with phenotypes.
  • To support the analysis and prediction of genetic variation effects.

Main Methods:

  • Review of existing scientific literature and online resources.
  • Identification of key databases for genetic variants (e.g., single nucleotide variants).
  • Assessment of bioinformatics tools for analyzing variation data and predicting variant effects.

Main Results:

  • Numerous resources now exist for identifying, annotating, and analyzing genetic variants.
  • Online databases collect single nucleotide variants and other types, detailing functional effects and trait associations.
  • Bioinformatics tools have been developed to process increasing variation data and predict variant impacts.

Conclusions:

  • Interpreting the human variome requires robust databases and advanced bioinformatics tools.
  • These resources are crucial for understanding individual genetic predispositions and disease associations.
  • Continued development in this field is essential for advancing precision medicine.