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

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

Karyotyping

Karyotyping

Karyotyping

Karyotyping

You might also read

Related Articles

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

Sort by

Same author

LAML-Pro: joint maximum likelihood inference of cell genotypes and cell lineage trees.

Bioinformatics (Oxford, England)·2026

Same author

Diffusion-based representation integration for foundation models improves spatial transcriptomics analysis.

Bioinformatics (Oxford, England)·2026

Same author

Riemannian metric learning for alignment of spatial multiomics.

Bioinformatics (Oxford, England)·2026

Same author

A study protocol for mixed-methods evaluation of the structure, design, and availability of medical student wellbeing programs.

PloS one·2026

Same author

The tree labeling polytope: A unified approach to ancestral reconstruction problems.

Cell systems·2026

Same author

A Far-Red FRET biosensor for AMPK enables multiplexed imaging of single-cell bioenergetic homeostasis.

bioRxiv : the preprint server for biology·2026

Search research articles

Related Experiment Video

Updated: Apr 11, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

MAGI: visualization and collaborative annotation of genomic aberrations

Mark D M Leiserson¹, Connor C Gramazio², Jason Hu²

¹1] Department of Computer Science, Brown University, Providence, Rhode Island, USA. [2] Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, USA.

|May 29, 2015

Summary

No abstract available in PubMed .

More Related Videos

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

Related Experiment Videos

Last Updated: Apr 11, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018