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

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

7.3K
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...
7.3K
Next-generation Sequencing03:00

Next-generation Sequencing

101.5K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
101.5K
RNA-seq03:21

RNA-seq

12.6K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
12.6K
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

839
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...
839
Sanger Sequencing01:57

Sanger Sequencing

779.0K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
779.0K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.3K
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%...
19.3K

You might also read

Related Articles

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

Sort by
Same author

Population discontinuity in the Paris Basin linked to evidence of the Neolithic decline.

Nature ecology & evolution·2026
Same author

Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit.

American journal of human genetics·2025
Same author

SVUPP: Pre-phasing long reads improves structural variant genotyping.

Bioinformatics (Oxford, England)·2025
Same author

Polygenic risk score for type 2 diabetes shows context-dependent effects across populations.

Nature communications·2025
Same author

SimOutbreakSelection: a simulation-based tool to optimise sampling design and analysis strategies for detecting epidemic-driven selection.

Nature communications·2025
Same author

AdDeam: a fast and scalable tool for estimating and clustering reference-level damage profiles.

Bioinformatics (Oxford, England)·2025

Related Experiment Video

Updated: Apr 4, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

38.3K

NgsRelate: a software tool for estimating pairwise relatedness from next-generation sequencing data.

Thorfinn Sand Korneliussen1, Ida Moltke2

  • 1Center for GeoGenetics and.

Bioinformatics (Oxford, England)
|September 2, 2015
PubMed
Summary

NgsRelate is a new software tool for estimating pairwise relatedness from next-generation sequencing (NGS) data. It accurately accounts for genotype uncertainty, outperforming existing methods on low-depth data.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

35.0K
G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome
06:40

G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome

Published on: March 22, 2018

6.3K

Related Experiment Videos

Last Updated: Apr 4, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

38.3K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

35.0K
G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome
06:40

G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome

Published on: March 22, 2018

6.3K

Area of Science:

  • Population Genetics
  • Genomics
  • Bioinformatics

Background:

  • Accurate pairwise relatedness estimation is crucial for population genetics and disease mapping.
  • Current methods rely on called genotypes, which are unreliable for low-depth next-generation sequencing (NGS) data.
  • Genotype uncertainty in NGS data limits the precision of traditional relatedness estimation techniques.

Purpose of the Study:

  • To develop a novel software tool, NgsRelate, for improved pairwise relatedness estimation from NGS data.
  • To address the limitations of genotype-based methods by incorporating genotype likelihoods.
  • To provide a robust solution for relatedness estimation in the presence of genotype uncertainty.

Main Methods:

  • Developed NgsRelate, a software tool implemented in C++.
  • Employed maximum likelihood estimation based on genotype likelihoods, not called genotypes.
  • Evaluated performance using both simulated and real low-depth NGS datasets.

Main Results:

  • NgsRelate provides accurate pairwise relatedness estimates by accounting for genotype uncertainty.
  • Demonstrated superior performance of NgsRelate compared to two state-of-the-art genotype-based methods.
  • NgsRelate significantly improves relatedness estimation accuracy for low-depth NGS data.

Conclusions:

  • NgsRelate offers a significant advancement in pairwise relatedness estimation for NGS data.
  • The tool effectively handles genotype uncertainty inherent in low-depth sequencing.
  • NgsRelate is freely available under the GNU license, promoting its use in genetic research.