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

16.7K
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...
16.7K
Incomplete Dominance01:43

Incomplete Dominance

32.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.6K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

38.8K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
38.8K
Trihybrid Crosses02:27

Trihybrid Crosses

26.7K
Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
The F1 generation plants of a trihybrid cross are heterozygous for all three traits and produce eight gametes. Upon self-fertilization, these gametes have an equal...
26.7K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

7.3K
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...
7.3K

You might also read

Related Articles

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

Sort by
Same author

Dual-Band Electrochromic Optical Modulation Improved by a Precise Control of Lithium Content in Li<sub>4+</sub>Ti<sub>5</sub>O<sub>12</sub>.

ACS applied materials & interfaces·2022
Same author

Characterization and Functional Prediction of Bacteria in Ovarian Tissues.

Journal of visualized experiments : JoVE·2021
Same author

The differential distribution of bacteria between cancerous and noncancerous ovarian tissues in situ.

Journal of ovarian research·2020
Same author

Pilot Study of Markers for High-grade Anal Dysplasia in a Southern Cohort From the Women's Interagency Human Immunodeficiency Virus Study.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America·2019
Same author

Simultaneous extraction of mRNA and microRNA from whole blood stabilized in tempus tubes.

BMC research notes·2019
Same author

The mirror RNA expression pattern in human tissues.

Precision medicine·2017

Related Experiment Video

Updated: Apr 6, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.1K

High-accuracy haplotype imputation using unphased genotype data as the references.

Wenzhi Li1, Wei Xu2, Guoxing Fu3

  • 1Department of Neurosurgery, First Affiliated Hospital of Medical School, Xi'an Jiaotong University, Xi'an, Shaanxi, China; Cardiovascular Research Institute, Morehouse School of Medicine, Atlanta, GA, USA.

Gene
|August 2, 2015
PubMed
Summary

Genomic data imputation is challenging due to limited references. Our HiFi software achieves 99.43% accuracy using unphased genotype data, offering a cost-effective solution for global population coverage.

Keywords:
Big dataImputationReferences

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.1K

Related Experiment Videos

Last Updated: Apr 6, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.1K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.1K

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • The rapid expansion of genomic datasets poses significant challenges for missing data imputation.
  • Haplotype imputation, crucial for genetic studies, traditionally relies on ethnicity-matched reference panels, which are unavailable for most global populations.
  • This scarcity of reference data creates a bottleneck in large-scale genomic analyses.

Purpose of the Study:

  • To investigate the feasibility of using existing unphased genotype datasets as references for haplotype imputation.
  • To develop a cost-effective and widely applicable method for haplotype imputation that overcomes the limitations of current reference panels.
  • To enhance the accessibility of genomic data analysis across diverse global populations.

Main Methods:

  • Exploration of unphased genotype datasets as novel reference panels for haplotype imputation.
  • Development and application of the HiFi software tool to perform imputation using these unphased references.
  • Evaluation of imputation accuracy using the HiFi software with unphased genotype references.

Main Results:

  • The HiFi software achieved a high imputation accuracy of 99.43% when utilizing unphased genotype datasets as references.
  • This approach successfully demonstrated the potential to cover nearly all global populations, overcoming the limitations of existing reference panels.
  • The method proved to be a cost-effective solution for haplotype imputation.

Conclusions:

  • Using unphased genotype datasets as references is a viable and highly accurate strategy for haplotype imputation.
  • The HiFi software provides a breakthrough solution for the challenge of limited reference panel availability in the era of big genomic data.
  • This cost-effective method significantly expands the possibilities for genomic imputation across diverse and underrepresented populations worldwide.