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

Pedigree Analysis01:35

Pedigree Analysis

89.0K
Overview
89.0K
Genomics02:02

Genomics

39.8K
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...
39.8K
Genetics of Speciation02:16

Genetics of Speciation

20.9K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
20.9K
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

9.0K
While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
9.0K
What is Genetic Engineering?00:49

What is Genetic Engineering?

79.7K
Overview
79.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.4K
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...
15.4K

You might also read

Related Articles

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

Sort by
Same author

Validation of the ACL Return to Sport after Injury (ACL-RSI) Scale in Pediatric and Adolescent Patients After Medial Patellofemoral Ligament Reconstruction.

Orthopaedic journal of sports medicine·2026
Same author

Patellar Tendon-Lateral Trochlear Ridge Distance Measurement as an Indicator of Patellar Instability With Malalignment.

Orthopaedic journal of sports medicine·2026
Same author

Outcomes of Medial Patellofemoral Ligament Reconstruction With Concomitant Tibial Tubercle Osteotomy for Failed Surgery for Patellar Instability Versus Primary Medial Patellofemoral Ligament Reconstruction With Concomitant Tibial Tubercle Osteotomy.

The American journal of sports medicine·2026
Same author

Patients undergoing medial patellofemoral ligament reconstruction return to sport sooner and at a higher level than those undergoing concomitant tibial tubercle osteotomy.

Journal of experimental orthopaedics·2025
Same author

Effect of Cartilage Injuries on Medial Patellofemoral Ligament Reconstruction Outcomes at Midterm Follow-up.

Orthopaedic journal of sports medicine·2025
Same author

Outcomes After Isolated Medial Patellofemoral Ligament Reconstruction for Recurrent Patellar Instability: Influence of Persistent Postoperative Apprehension and J-Sign.

The American journal of sports medicine·2025

Related Experiment Video

Updated: Jan 21, 2026

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

1.9K

A New Pedigree-Based SNP Haplotype Method for Genomic Polymorphism and Genetic Studies.

Zareen Vadva1, Charles E Larsen2,3, Bennett E Propp1

  • 1Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA 02115, USA.

Cells
|August 8, 2019
PubMed
Summary

This study introduces a new method for creating accurate single nucleotide polymorphism (SNP) haplotypes using pedigree data. This approach enhances the study of genomic structure and genetic associations with diseases like type 1 diabetes.

Keywords:
HLA polymorphismT1DGCdisease associationhaplotypemajor histocompatibility complex (MHC)pedigreephaseprotocolsingle nucleotide polymorphism (SNP)type 1 diabetes (T1D)

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.4K
Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR
06:18

Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR

Published on: July 11, 2025

835

Related Experiment Videos

Last Updated: Jan 21, 2026

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

1.9K
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.4K
Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR
06:18

Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR

Published on: July 11, 2025

835

Area of Science:

  • Genomics
  • Population Genetics
  • Genetic Epidemiology

Background:

  • Single nucleotide polymorphisms (SNPs) are common genomic variations.
  • Pedigree-phased multi-SNP haplotypes offer a more accurate view of population genomic structure than individual SNPs.
  • Accurate haplotypes are crucial for genetic correlation with phenotypes.

Purpose of the Study:

  • To develop a novel pedigree-based methodology for generating non-ambiguous SNP haplotypes.
  • To optimize SNP data for haplotype analysis by reducing redundancy and maximizing polymorphism.
  • To evaluate the utility of edited SNP haplotypes in genetic association studies.

Main Methods:

  • Extracted SNP data from the Type 1 Diabetes Genetics Consortium dataset.
  • Edited SNP data based on minor allele frequency, redundancy, coverage rate, and genomic location.
  • Developed a pedigree-based methodology for haplotype generation.
  • Compared edited SNP haplotypes with HLA-typed haplotypes in a type 1 diabetes association assay.

Main Results:

  • Edited SNP haplotypes from the HLA-DRB1 and HLA-DQB1 region correlated well with HLA-typed haplotypes.
  • The method differentiated conserved extended haplotypes.
  • Edited SNP haplotypes and HLA-typed haplotypes yielded similar results in type 1 diabetes genetic association analysis.

Conclusions:

  • The described pedigree-based SNP haplotype method is effective for analyzing genomic polymorphic architecture.
  • This method is valuable for genetic association evaluations, particularly with diverse SNP minor allele frequencies.
  • The approach provides accurate and reliable haplotype data for genetic studies.