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

Unveiling Spin and Poynting Dual Textures of an Optical Skyrmionic Tube in Free Space.

Physical review letters·2026

Same author

Multi-adaptive super-resolving pupil filter for sub-diffraction limited focusing and imaging.

Optics express·2026

Same author

A parsimonious preoperative prediction model for postoperative sepsis following upper urinary tract calculi surgery.

Urolithiasis·2026

Same author

Large-scale association study identifies lung cancer susceptibility copy number variants and their potential functional role in genetic instability.

medRxiv : the preprint server for health sciences·2026

Same author

CN-RNN: a Deep Learning Framework for Copy Number Variation Detection with Exome Sequencing Data.

bioRxiv : the preprint server for biology·2026

Same author

PHKG2 confers resistance of ESCC to cisplatin and enhances CXCL8-dependent immunosuppression to exacerbate tumorigenesis.

Cell death & disease·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 31, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

A statistical learning method for simultaneous copy number estimation and subclone clustering with single cell

Fei Qin, Guoshuai Cai, Feifei Xiao

Biorxiv : the Preprint Server for Biology

|May 3, 2023

Summary

This summary is machine-generated.

Single cell sequencing (SCS) allows for intra-tumor heterogeneity assessment. Our fused lasso copy number aberration (FLCNA) method accurately identifies subclones and genomic variations in single-cell DNA sequencing data.

More Related Videos

Characterizing Mutational Load and Clonal Composition of Human Blood

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Published on: January 10, 2019

Related Experiment Videos

Last Updated: Jul 31, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Characterizing Mutational Load and Clonal Composition of Human Blood

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Published on: January 10, 2019

Area of Science:

Genomics
Computational Biology
Cancer Research

Background:

Single cell sequencing (SCS) is crucial for analyzing intra-tumor heterogeneity.
Copy number aberrations (CNAs) are commonly used to identify subclones in SCS data.
Existing CNA detection methods can produce inaccurate results, impacting subclone identification.

Conclusions:

FLCNA is a practical and powerful tool for CNA detection and subclone identification in scDNA-seq data.
The method offers improved accuracy for analyzing complex single-cell genomic profiles.
FLCNA can uncover significant genomic alterations in cancer evolution and treatment response.