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

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...
Applications of Molecular Taxonomy01:20

Applications of Molecular Taxonomy

Molecular taxonomy has revolutionized the understanding and classification of bacteria, providing precise insights into their diversity, evolutionary relationships, and ecological roles. By utilizing molecular techniques such as DNA sequencing and fingerprinting, researchers have made significant strides in various fields related to bacterial studies.Resolving Taxonomic AmbiguitiesMolecular taxonomy has been instrumental in distinguishing closely related bacterial species initially thought to...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism

You might also read

Related Articles

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

Sort by
Same author

Population-specific polygenic risk scores for people of Han Chinese ancestry.

Nature·2025
Same author

Functional sequence variants of intergenic long noncoding RNA on chromosome 17q21 are associated with asthma.

The European respiratory journal·2025
Same author

PNL: a software to build polygenic risk scores using a super learner approach based on PairNet, a Convolutional Neural Network.

Bioinformatics (Oxford, England)·2025
Same author

Contribution of the <i>APOE</i> Genotype to Cognitive Impairment in Individuals With <i>NOTCH3</i> Cysteine-Altering Variants.

Journal of the American Heart Association·2023
Same author

Extracellular Nicotinamide Phosphoribosyltransferase as a Surrogate Marker of Prominent Malignant Potential in Colonic Polyps: A 2-Year Prospective Study.

Cancers·2023
Same author

Effects of insomnia and non-vasomotor menopausal symptoms on coronary heart disease risk: a mendelian randomization study.

Heliyon·2023
Same journal

Calcium and phosphorylation coordination is a novel mechanism that stabilises protein-complexes during HIV assembly.

Journal of biomedical science·2026
Same journal

CLEC5A/TLR2 bispecific antibody suppresses dengue virus-induced pro-inflammatory cytokines production from macrophages.

Journal of biomedical science·2026
Same journal

Offense and defense: itaconate mediates bidirectional immune regulation of host-bacteria interaction.

Journal of biomedical science·2026
Same journal

Enhanced expression of ADAMTS1 in ovarian carcinomas: loss of ADAMTS1 expression instigates cellular reprogramming of extracellular matrix ensuing altered plasticity, augmented migration and attenuated adhesion.

Journal of biomedical science·2026
Same journal

Mechanobiology of the tumor microenvironment: a review of therapeutic interactions and in vitro elasticity measurement techniques.

Journal of biomedical science·2026
Same journal

Lack of cortistatin drives neuroimmune and vascular dysfunction in brain ischemia.

Journal of biomedical science·2026
See all related articles

Related Experiment Video

Updated: Jun 22, 2026

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

A novel tool for individual haplotype inference using mixed data.

Chen-Pang Lin1, Cathy S J Fann

  • 1Institute of Public Health, National Yang-Ming University, Taipei, Taiwan.

Journal of Biomedical Science
|June 3, 2009
PubMed
Summary
This summary is machine-generated.

Researchers developed a new method, MIXMUL, for accurate haplotype inference from mixed data sets including unrelated individuals and trios. This approach provides reliable haplotype frequency estimates and optimal pair reconstruction for all subjects.

Related Experiment Videos

Last Updated: Jun 22, 2026

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

Area of Science:

  • Genetics
  • Bioinformatics
  • Statistical genetics

Background:

  • Haplotype inference methods often struggle with mixed data sets comprising unrelated individuals and independent trios.
  • Accurate haplotype reconstruction is crucial for genetic studies.

Purpose of the Study:

  • To develop a general and simple methodology for haplotype inference using mixed data sets.
  • To improve the accuracy of haplotype frequency estimation and individual-level reconstruction.

Main Methods:

  • A mixture of weighted multinomial (MIXMUL) approach was proposed.
  • MIXMUL combines haplotype information from unrelated individuals and independent trios.

Main Results:

  • MIXMUL accurately estimates haplotype frequencies from mixed data sets.
  • The procedure outputs probable haplotype pairs in optimized reconstruction outcomes.
  • Simulation results show MIXMUL competes well with existing methods like FAMHAP.

Conclusions:

  • MIXMUL provides accurate haplotype frequency estimates comparable to FAMHAP.
  • The method is suitable for data sets combining unrelated individuals and independent trios.
  • MIXMUL enables accurate estimation and optimal reconstruction of haplotype pairs for all subjects.