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

Human Genetics01:28

Human Genetics

714
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
714
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

8.0K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
8.0K
Incomplete Dominance01:43

Incomplete Dominance

25.4K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.4K
Genomics02:02

Genomics

37.4K
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...
37.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
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%...
17.9K
Next-generation Sequencing03:00

Next-generation Sequencing

92.5K
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....
92.5K

You might also read

Related Articles

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

Sort by
Same author

Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.

medRxiv : the preprint server for health sciences·2026
Same author

Correction: How convincing is a matching Y-chromosome profile?

PLoS genetics·2026
Same author

Predicted protein 3D structures provide essential insights into the genetic architecture underlying phenotypic diversity in maize.

Genome research·2025
Same author

LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes.

Nature genetics·2025
Same author

Does the Path From Cigarette Smoking to Suicide Death Go Through the Hospital? A Causal Mediation Analysis in a National Canadian Sample.

Tobacco use insights·2025
Same author

Genome-wide association meta-analyses of drug-resistant epilepsy.

EBioMedicine·2025
Same journal

FIGLA Novel Variant c.385-9G>A Affects RNA Splicing in a Minigene Assay.

Annals of human genetics·2026
Same journal

Epigenetic Shifts in MTNR1A, MTNR1B and Fn14 and Their Links to Preeclampsia Risk.

Annals of human genetics·2026
Same journal

Hip Bone Marrow Adiposity as a Risk Factor for Alzheimer's Disease: Insights From Mendelian Randomization Analysis.

Annals of human genetics·2026
Same journal

A Novel Biallelic REL Frameshift Variant p.(Tyr9Ilefs*2) Causing Immunodeficiency-92 With Profound c-Rel Deficiency.

Annals of human genetics·2026
Same journal

Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysis.

Annals of human genetics·2026
Same journal

Genetic Insights Into Hypertension and Breast Cancer Risk in African Women: A Mendelian Randomization and Colocalization Analyses.

Annals of human genetics·2026
See all related articles

Related Experiment Video

Updated: Sep 8, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.3K

Recent Statistical Innovations in Human Genetics.

David J Balding1,2, Doug Speed3

  • 1Melbourne Integrative Genomics, School of Mathematics & Statistics, University of Melbourne, Parkville, Victoria, Australia.

Annals of Human Genetics
|June 27, 2025
PubMed
Summary
This summary is machine-generated.

Statistical innovations drive progress in human genetics, enhancing genealogical modeling, genome-wide association studies, and forensic DNA analysis. While autosomal DNA profiling is robust, mitochondrial and Y-chromosome DNA profiling requires further statistical development.

Keywords:
ancestral recombination graphcoalescent modelscomplex traitsforensic DNA profilesgenetic epidemiologygenome‐wide association studiesheritability

More Related Videos

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.2K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

Related Experiment Videos

Last Updated: Sep 8, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.3K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.2K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

Area of Science:

  • Human genetics
  • Statistical genetics
  • Population genetics
  • Evolutionary genetics
  • Medical genetics
  • Forensic genetics

Background:

  • Human genetics has seen significant advancements driven by statistical innovation over recent decades.
  • Key areas include mathematical modeling of genetic data genealogies, genome-wide association studies (GWAS), and forensic DNA profiling.
  • Coalescent theory and statistical methods for GWAS have undergone rapid development and application.

Purpose of the Study:

  • To review three pivotal areas in human genetics where statistical innovation has been crucial.
  • To highlight recent advances and future potential in these fields.
  • To discuss the statistical underpinnings of genealogical modeling, GWAS, and forensic DNA profiling.

Main Methods:

  • Review of coalescent theory development and applications in population, evolutionary, and medical genetics.
  • Examination of statistical methods for genome-wide association studies, including recent developments.
  • Analysis of statistical approaches used to resolve controversies in forensic DNA profiling.

Main Results:

  • Coalescent theory has become a burgeoning tool in various genetic disciplines.
  • Statistical methods for GWAS have advanced significantly, with new approaches for association testing and trait prediction.
  • Autosomal DNA profile interpretation has seen major advances, setting a benchmark for forensic science.

Conclusions:

  • Statistical innovation is fundamental to progress in human genetics.
  • While autosomal DNA profiling is well-established, statistical methods for uniparentally inherited DNA profiles (mitochondrial DNA, Y chromosome) require further improvement.
  • Continued statistical development holds promise for future breakthroughs in genetic research and application.