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

13.7K
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...
13.7K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

5.9K
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...
5.9K
Human Genetics01:28

Human Genetics

643
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...
643
Exon Recombination02:32

Exon Recombination

3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.8K
Next-generation Sequencing03:00

Next-generation Sequencing

91.8K
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....
91.8K

You might also read

Related Articles

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

Sort by
Same author

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.

Nature genetics·2026
Same author

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026
Same author

Astrocytes contribute to olanzapine-mediated reversal of Kleefstra Syndrome-associated neurodevelopmental regression.

The Journal of clinical investigation·2026
Same author

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Nature medicine·2026
Same author

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: Aug 5, 2025

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

9.8K

Inferring compound heterozygosity from large-scale exome sequencing data.

Michael H Guo1,2, Laurent C Francioli2,3, Sarah L Stenton2,3,4

  • 1Department of Neurology, Hospital of the University of the Pennsylvania, Philadelphia, PA, USA.

Biorxiv : the Preprint Server for Biology
|March 30, 2023
PubMed
Summary
This summary is machine-generated.

Determining the chromosomal location (phase) of genetic variants is crucial for diagnosing recessive diseases. This study presents a novel computational method using exome sequencing data to accurately infer variant phase, even for rare variants.

More Related Videos

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.1K
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

10.2K

Related Experiment Videos

Last Updated: Aug 5, 2025

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

9.8K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.1K
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

10.2K

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Recessive diseases occur when individuals inherit two damaging variants in a gene, one from each parent.
  • Accurate diagnosis of recessive disorders requires distinguishing if variants are on the same (cis) or different (trans) chromosome copies.
  • Current methods for determining variant phase in clinical settings are limited, especially without parental data.

Approach:

  • Developed a computational strategy to infer the phase of rare variant pairs within genes.
  • Leveraged genotype data from the Genome Aggregation Database (gnomAD v2) comprising 125,748 individuals.
  • Validated the approach using trio data and a cohort of patients with Mendelian conditions.

Key Points:

  • The method achieves 95.7% accuracy in phasing variant pairs using trio data.
  • It remains highly accurate for very rare variants (allele frequency < 1x10^-4).
  • Successfully phased 95.9% of variant pairs in patients with compound heterozygous Mendelian conditions.

Conclusions:

  • The developed strategy provides an accurate and scalable method for inferring genetic variant phase.
  • A public resource of phasing estimates from gnomAD is now available to aid in interpreting rare variant pairs.
  • This work facilitates the diagnosis of recessive diseases by improving the interpretation of compound heterozygous variants.