Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.5K
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...
16.5K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

7.2K
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...
7.2K
Next-generation Sequencing03:00

Next-generation Sequencing

100.7K
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....
100.7K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.6K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.6K
Sanger Sequencing01:57

Sanger Sequencing

777.6K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
777.6K
Genomics02:02

Genomics

41.6K
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...
41.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Phospho-SXXE/D motif mediated TNF receptor 1-TRADD death domain complex formation for T cell activation and migration.

Journal of immunology (Baltimore, Md. : 1950)·2011
Same author

Morphology-dependent field emission properties and wetting behavior of ZnO nanowire arrays.

Nanoscale research letters·2011
Same author

Fabrication and magnetic properties of granular Co/porous InP nanocomposite materials.

Nanoscale research letters·2011
Same author

Comparative permeabilities of the paracellular and transcellular pathways of corneal endothelial layers.

The Journal of membrane biology·2011
Same author

In vitro characterization of the metabolic pathways and cytochrome P450 inhibition and induction potential of BMS-690514, an ErbB/vascular endothelial growth factor receptor inhibitor.

Drug metabolism and disposition: the biological fate of chemicals·2011
Same author

Evaluation of primary HPV-DNA testing in relation to visual inspection methods for cervical cancer screening in rural China: an epidemiologic and cost-effectiveness modelling study.

BMC cancer·2011

Related Experiment Video

Updated: Mar 19, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.0K

References for Haplotype Imputation in the Big Data Era.

Wenzhi Li1, Wei Xu1, Qiling Li2

  • 1Center of Big Data and Bioinformatics, First Affiliated Hospital of Medicine School, Xi'an Jiaotong University, Xi'an, Shaanxi, China; Cardiovascular Research Institute and Department of Medicine, Morehouse School of Medicine, Atlanta, Georgia, USA.

Molecular Biology (Los Angeles, Calif.)
|June 9, 2016
PubMed
Summary

Haplotype imputation using reference panels is crucial for genetic studies but lacks diverse ethnic data. This review compares methods to improve imputation accuracy for underrepresented populations.

Keywords:
HaplotypesImputationReferences

More Related Videos

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.9K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.8K

Related Experiment Videos

Last Updated: Mar 19, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.0K
Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.9K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.8K

Area of Science:

  • Genomics
  • Bioinformatics
  • Population Genetics

Background:

  • Imputation is vital for filling missing genetic data in large datasets.
  • Haplotype imputation accuracy depends on ethnicity-matched reference panels.
  • Current reference panels lack ethnic diversity, hindering imputation for many populations.

Purpose of the Study:

  • To review and compare existing approaches for improving haplotype imputation with limited ethnic reference panels.
  • To highlight the importance of accurate haplotype imputation for understanding gene function and disease.

Main Methods:

  • Review of existing literature on imputation methods.
  • Comparison of mixed, internal, and genotype-converted reference panels.
  • Discussion of the role of haplotype analysis in cis-interaction studies.

Main Results:

  • Several approaches exist to address the lack of ethnicity-matched reference panels.
  • Each method (mixed, internal, genotype-converted) has specific advantages and limitations.
  • Haplotype analysis is essential for studying cis-interactions and common diseases.

Conclusions:

  • Addressing the ethnic diversity gap in reference panels is critical for accurate imputation.
  • Improved imputation methods will advance genetic research, clinical diagnosis, and personalized medicine.
  • Haplotype imputation is key to understanding complex genetic interactions and diseases.