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

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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%...

Genetic Variation

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Modern Molecular Taxonomy

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

You might also read

Related Articles

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

Sort by

Same author

Flexible and rapid validation of structural variation using adaptive sampling.

European journal of human genetics : EJHG·2026

Same author

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.

Bioinformatics (Oxford, England)·2026

Same author

Nationwide multicentre study of Nanopore long-read sequencing for 16S rRNA-species identification.

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology·2025

Same author

Acute Vestibular Syndrome Unmasking an <i>RFC1</i>-Spectrum Disorder.

Neurology. Genetics·2025

Same author

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.

Genome research·2024

Same author

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Genome research·2024

Search research articles

Related Experiment Video

Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Characterizing and interpreting genetic variation from personal genome sequencing.

Anna C V Johansson¹, Lars Feuk

¹Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

Methods in Molecular Biology (Clifton, N.J.)

|January 10, 2012

Summary

Next-generation sequencing enables whole human genome sequencing, presenting common data analysis and interpretation challenges across diverse platforms. This overview covers completed projects, variation analysis, and the complexities of genomic data interpretation.

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Related Experiment Videos

Last Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Area of Science:

Genomics
Bioinformatics

Background:

The human genome project spurred advancements in DNA sequencing technologies.
Next-generation sequencing (NGS) allows for rapid, comprehensive human genome sequencing.

Purpose of the Study:

To provide an overview of completed human genome sequencing projects.
To discuss the common challenges in analyzing, calling, and interpreting whole-genome sequence data.

Main Methods:

Review of existing human genome sequencing projects and strategies.
Discussion of sequence alignment and variation calling methodologies.
Exploration of algorithms and tools for identifying genetic variations, including structural variations.

Main Results:

Several individual human genomes have been fully sequenced using various experimental strategies.
Common challenges exist in data analysis, variation calling, and result interpretation across different sequencing platforms.
Identification of structural variations like copy number and insertion-deletion variants is complex.

Conclusions:

Despite differing protocols, whole-genome sequencing analysis shares common hurdles.
Interpreting whole-genome sequence data presents both technical and clinical challenges.
A plethora of algorithms and tools are available for genetic variation analysis.