Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

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%...

You might also read

Related Articles

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

Sort by

Same author

Perturbation of genes linked to common schizophrenia risk variants identifies cilia programs.

bioRxiv : the preprint server for biology·2026

Same author

SpatialArtifacts: a computational framework for tissue artifact detection in spatial transcriptomics data.

bioRxiv : the preprint server for biology·2026

Same author

Spatio-molecular gene expression reflects dorsal anterior cingulate cortex structure and function in the human brain.

Cell reports·2026

Same author

Integrating Negative-Pressure Wound Therapy in the Therapeutic Protocol of Extensive Pediatric Burns: Current Practice and Further Treatment Decision Algorithm.

Medicina (Kaunas, Lithuania)·2026

Same author

Mesenchymal Stem Cell-Derived Extracellular Vesicles and Plant-Derived Nanovesicles as Cell-Free Therapies for Thermal Burn Healing: A Systematic Review of Preclinical Evidence and Delivery Strategies.

Medical sciences (Basel, Switzerland)·2026

Same author

StringTie3 improves total RNA-seq assembly by resolving nascent and mature transcripts.

Nature methods·2026

Same journal

Layered social competition coordinates reproductive hierarchy formation in ants.

bioRxiv : the preprint server for biology·2026

Same journal

Combination epigenetic-targeted therapy increases the immunogenicity of poorly immunogenic sarcomas.

bioRxiv : the preprint server for biology·2026

Same journal

Loss of LanC-like proteins delays post-injury regeneration of aging skeletal muscles.

bioRxiv : the preprint server for biology·2026

Same journal

Integrative Transfer Network: Deep Transfer Learning Across Populations and Prediction Targets.

bioRxiv : the preprint server for biology·2026

Same journal

Confidence-supported label-free metabolic imaging with FPhaS phase autofluorescence microscopy.

bioRxiv : the preprint server for biology·2026

Same journal

Sequence-encoded autoinhibition couples mRNA decapping activity to phase separation.

bioRxiv : the preprint server for biology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jul 21, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

Detecting differential transcript usage in complex diseases with SPIT.

Beril Erdogdu^1,2, Ales Varabyou^1,3, Stephanie C Hicks^1,4,5

¹Center for Computational Biology, Johns Hopkins University; Baltimore, MD, United States.

Biorxiv : the Preprint Server for Biology

|July 28, 2023

Summary

This summary is machine-generated.

Differential transcript usage (DTU) analysis reveals distinct subgroups in complex diseases. SPIT, a new tool, identifies novel DTU events in schizophrenia, advancing our understanding of disease heterogeneity.

More Related Videos

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Three Differential Expression Analysis Methods for RNA Sequencing: limma, EdgeR, DESeq2

Three Differential Expression Analysis Methods for RNA Sequencing: limma, EdgeR, DESeq2

Published on: September 18, 2021

Related Experiment Videos

Last Updated: Jul 21, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Three Differential Expression Analysis Methods for RNA Sequencing: limma, EdgeR, DESeq2

Three Differential Expression Analysis Methods for RNA Sequencing: limma, EdgeR, DESeq2

Published on: September 18, 2021

Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Differential transcript usage (DTU) is vital for biological complexity and disease pathogenesis.
Analyzing DTU in complex diseases is challenging due to population heterogeneity and unknown subtypes.

Approach:

Introduced SPIT, the first statistical tool to quantify transcript usage heterogeneity within populations.
SPIT identifies predominant subgroups and their unique DTU events.
Validated SPIT's methodology for single-gene and complex traits.

Key Points:

SPIT successfully quantifies transcript usage heterogeneity.
SPIT identifies distinct subgroups within complex disease populations.
Applied SPIT to analyze brain samples from individuals with schizophrenia.

Conclusions:

SPIT reveals previously unreported DTU events in six candidate genes associated with schizophrenia.
This work enhances the understanding of DTU's role in complex diseases.
SPIT offers a novel approach for dissecting disease heterogeneity.