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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-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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
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...
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.

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Related Experiment Video

Updated: May 28, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Mapping personal functional data to personal genomes.

Marcelo Rivas-Astroza1, Dan Xie, Xiaoyi Cao

  • 1Department of Bioengineering, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.

Bioinformatics (Oxford, England)
|October 19, 2011
PubMed
Summary
This summary is machine-generated.

Personal Genome Editor (perEditor) corrects reference genome mapping errors for individual genomes. This tool enables accurate analysis of allele-specific binding, chromatin structure, and gene expression, improving personal genomics research.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

Related Experiment Videos

Last Updated: May 28, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

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

  • Genomics
  • Bioinformatics

Background:

  • Personal genome sequencing reveals variation in transcription factor (TF) binding, chromatin structure, and gene expression contributing to phenotypic variation.
  • Mapping sequencing reads to a reference genome may introduce errors in polymorphic regions, impacting downstream analyses.

Purpose of the Study:

  • To develop a tool that generates an individual-specific human genome from a reference genome.
  • To enable accurate analysis of allele-specific genomic features.

Main Methods:

  • Developed Personal Genome Editor (perEditor) software.
  • perEditor modifies the reference human genome (NCBI36/hg18) to an individual's genome, incorporating SNPs, indels, CNVs, and chromosomal rearrangements.
  • Outputs maternal and paternal alleles of the individual genome.

Main Results:

  • perEditor generates personalized genome reference files.
  • The output enables mapping of ChIP-seq and RNA-seq reads to individual-specific alleles.
  • Facilitates analysis of allele-specific transcription factor binding, chromatin structure, and gene expression.

Conclusions:

  • perEditor addresses limitations of using a reference genome for personal genomics.
  • The tool enhances the accuracy of analyses involving polymorphic genomic regions.
  • Enables deeper understanding of genotype-phenotype relationships through allele-specific analyses.