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

Gene Conversion02:08

Gene Conversion

9.6K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
9.6K

You might also read

Related Articles

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

Sort by
Same author

Tiny Subsamples and Upsampling Tame Big Data Evolutionary Analysis in Phylogenomics.

bioRxiv : the preprint server for biology·2026
Same author

Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.

bioRxiv : the preprint server for biology·2026
Same author

Decreased degree of adipocyte differentiation in visceral adipose tissue contributes to metabolic dysfunction-associated steatotic liver disease.

Nature communications·2026
Same author

The Rising Burden of Early-Onset Cancer: Challenges and Opportunities.

Cancer discovery·2026
Same author

A Longitudinal Comprehensive Biospecimen and Clinical Data Repository for Cancer Early Detection: The InAdvance Study.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2026
Same author

Association of Family History and Polygenic Risk Scores With Prostate Cancer in Africa.

JCO global oncology·2026

Related Experiment Video

Updated: May 29, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.0K

STICI: Split-Transformer with integrated convolutions for genotype imputation.

Mohammad Erfan Mowlaei1, Chong Li1, Oveis Jamialahmadi2

  • 1Computer & Information Sciences, College of Science and Technology, Temple University, Philadelphia, PA, USA.

Nature Communications
|January 31, 2025
PubMed
Summary

STICI, a new transformer-based framework, accurately imputes missing genotypes in genome-scale datasets. This method enhances genetic and genomic studies by improving imputation accuracy across diverse genomic regions and variant types.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
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

15.2K

Related Experiment Videos

Last Updated: May 29, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.0K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
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

15.2K

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Genome-scale datasets frequently contain missing data, complicating genetic and genomic analyses.
  • Genotype imputation is crucial for addressing missing data but struggles with specific genomic regions and large structural variants.

Purpose of the Study:

  • To introduce STICI, a novel transformer-based framework for accurate genotype imputation.
  • To demonstrate STICI's capability to learn genome-wide linkage disequilibrium patterns for improved imputation.

Main Methods:

  • Developed a transformer-based framework (STICI) for genotype imputation.
  • Utilized self-supervision for automatic training on diverse genome collections.
  • Evaluated performance on human (1000 Genomes Project) and non-human genomes.

Main Results:

  • STICI achieves high imputation accuracy comparable to state-of-the-art methods.
  • Demonstrated superior performance in regions with highly linked variants.
  • Successfully imputed multi-allelic and various genetic variant types across species.

Conclusions:

  • STICI offers an adaptable and accurate solution for imputing missing genotypes in any species.
  • The framework's ability to learn linkage disequilibrium patterns enhances its utility for genetic and genomic research.
  • STICI overcomes limitations of existing methods in imputing challenging genomic regions and structural variants.