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

16.0K
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...
16.0K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

53
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
53

You might also read

Related Articles

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

Sort by
Same author

An international study presenting a federated learning AI platform for pediatric brain tumors.

Nature communications·2024
Same author

Synonymous codon substitutions modulate transcription and translation of a divergent upstream gene by modulating antisense RNA production.

Proceedings of the National Academy of Sciences of the United States of America·2024
Same author

Profiling expression strategies for a type III polyketide synthase in a lysate-based, cell-free system.

Scientific reports·2024
Same author

Profiling Expression Strategies for a Type III Polyketide Synthase in a Lysate-Based, Cell-free System.

bioRxiv : the preprint server for biology·2023
Same author

Screening for resistance alleles to Cry1 proteins through targeted sequencing in the native and invasive range of Spodoptera frugiperda (Lepidoptera: Noctuidae).

Journal of economic entomology·2023
Same author

Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World.

PLoS neglected tropical diseases·2023
Same journal

circ2DGNN: circRNA-Disease Association Prediction via Transformer-Based Graph Neural Network.

IEEE/ACM transactions on computational biology and bioinformatics·2024
Same journal

Hierarchical Hypergraph Learning in Association- Weighted Heterogeneous Network for miRNA- Disease Association Identification.

IEEE/ACM transactions on computational biology and bioinformatics·2024
Same journal

Discriminative Domain Adaption Network for Simultaneously Removing Batch Effects and Annotating Cell Types in Single-Cell RNA-Seq.

IEEE/ACM transactions on computational biology and bioinformatics·2024
Same journal

MLW-BFECF: A Multi-Weighted Dynamic Cascade Forest Based on Bilinear Feature Extraction for Predicting the Stage of Kidney Renal Clear Cell Carcinoma on Multi-Modal Gene Data.

IEEE/ACM transactions on computational biology and bioinformatics·2024
Same journal

An End-to-End Knowledge Graph Fused Graph Neural Network for Accurate Protein-Protein Interactions Prediction.

IEEE/ACM transactions on computational biology and bioinformatics·2024
Same journal

Generative Biomedical Event Extraction With Constrained Decoding Strategy.

IEEE/ACM transactions on computational biology and bioinformatics·2024
See all related articles

Related Experiment Video

Updated: Mar 1, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.9K

Highly Accurate and Efficient Data-Driven Methods for Genotype Imputation.

Olivia Choudhury, Ankush Chakrabarty, Scott J Emrich

    IEEE/ACM Transactions on Computational Biology and Bioinformatics
    |June 3, 2017
    PubMed
    Summary
    This summary is machine-generated.

    Accurate Data-Driven Imputation Technique (ADDIT) improves genotype data quality for both model and non-model organisms. ADDIT offers a faster, more accurate, and memory-efficient solution for haplotype phasing by imputing missing genetic information.

    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
    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

    3.6K

    Related Experiment Videos

    Last Updated: Mar 1, 2026

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

    Infinium Assay for Large-scale SNP Genotyping Applications

    Published on: November 19, 2013

    39.9K
    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
    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

    3.6K

    Area of Science:

    • Genomics
    • Bioinformatics
    • Computational Biology

    Background:

    • High-throughput sequencing generates vast genotype data, essential for genetic analysis.
    • Haplotype phasing is crucial for genotype data analysis but is hindered by missing data.
    • Existing imputation methods often require reference panels, limiting their use in non-model organisms.

    Purpose of the Study:

    • To develop a novel imputation technique, Accurate Data-Driven Imputation Technique (ADDIT), for improving genotype data quality.
    • To create a versatile imputation tool applicable to both model and non-model organisms, addressing limitations of reference-dependent methods.
    • To enhance the accuracy, speed, and memory efficiency of genotype imputation.

    Main Methods:

    • Developed ADDIT, comprising two data-driven algorithms: ADDIT-NM (non-model organisms) using statistical inference and ADDIT-M (model organisms) using supervised learning.
    • Evaluated ADDIT's performance against state-of-the-art imputation tools.
    • Utilized genotype data from model (human) and non-model (maize, apple, grape) organisms for comprehensive testing.

    Main Results:

    • Both ADDIT variants demonstrated superior accuracy compared to existing imputation tools.
    • ADDIT significantly outperformed leading methods in terms of speed and memory requirements.
    • The tool effectively imputed missing genotypes across diverse organisms, including those without reference panels.

    Conclusions:

    • ADDIT provides a robust and efficient solution for genotype imputation in both model and non-model organisms.
    • The data-driven approach of ADDIT overcomes the need for reference panels, expanding imputation capabilities.
    • ADDIT represents a significant advancement in bioinformatics tools for genetic data analysis.