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

Law of Segregation

Law of Segregation

When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.

Chi-square Analysis

Chi-square Analysis

The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
The chi-square test was developed by Pearson in 1990.
The first step of performing a Chi-square analysis is to establish a null hypothesis, which assumes that there is no real...

You might also read

Related Articles

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

Sort by

Same authorSame journal

Quo vadis, BGA? A collaborative EDNAP exercise on the challenges and progress in forensic biogeographical ancestry inference.

Forensic science international. Genetics·2026

Same author

Technical reliability of genotyping SNPs for forensic DNA phenotyping using SNaPshot- and MPS-based assays.

International journal of legal medicine·2026

Same author

Evaluative sub-source and activity level reporting in Austria, Germany and Switzerland.

Forensic science international·2025

Same author

TrACE - Trace analysis collaborative exercise: A transparent, expert driven concept of proficiency tests.

Forensic science international. Genetics·2025

Same author

Comparisons of aged samples and modern references provide algorithm for mtDNA analysis in challenging material.

Scientific reports·2025

Same author

Corrigendum to "Impact of adult-onset multiple sclerosis on MRI-based intracranial volume: A study in clinically discordant monozygotic twins" [NeuroImage Clin. 42 (2024) 103597].

NeuroImage. Clinical·2024

Search research articles

Related Experiment Video

Updated: Jul 13, 2025

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

Published on: October 25, 2018

Phenotype predictions of two-person mixture using single cell analysis.

Marta Diepenbroek¹, Birgit Bayer¹, Katja Anslinger¹

¹Institute of Legal Medicine LMU Munich, Nussbaumstrasse 26, 80336 Munich, Germany.

Forensic Science International. Genetics

|October 13, 2023

Summary

Forensic DNA phenotyping (FDP) can now predict appearance from crime scene DNA mixtures. This study introduces single-cell sequencing to accurately phenotype contributors within mixtures, overcoming a key challenge in forensic investigations.

Keywords:

DEPArray FDP Forensic DNA phenotyping HIrisPlex-S MPS Massively parallel sequencing Mixture deconvolution NGS Next generation sequencing Phenotype prediction Single cell analysis Single cell sequencing

More Related Videos

Simultaneous Assessment of Kinship, Division Number, and Phenotype via Flow Cytometry for Hematopoietic Stem and Progenitor Cells

Simultaneous Assessment of Kinship, Division Number, and Phenotype via Flow Cytometry for Hematopoietic Stem and Progenitor Cells

Published on: March 24, 2023

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons

Published on: July 7, 2023

Related Experiment Videos

Last Updated: Jul 13, 2025

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

Published on: October 25, 2018

Simultaneous Assessment of Kinship, Division Number, and Phenotype via Flow Cytometry for Hematopoietic Stem and Progenitor Cells

Simultaneous Assessment of Kinship, Division Number, and Phenotype via Flow Cytometry for Hematopoietic Stem and Progenitor Cells

Published on: March 24, 2023

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons

Author Spotlight: Generating Neuronal Phenotypic Profiles - A Protocol to Culture and Image Human Midbrain Dopaminergic Neurons

Published on: July 7, 2023

Area of Science:

Forensic genetics
Genomic analysis
Biotechnology

Background:

Forensic DNA phenotyping (FDP) aims to predict externally visible characteristics from DNA evidence.
Implementation of FDP in routine casework faces challenges, particularly with DNA mixtures.
Accurate phenotype prediction from mixed DNA samples is crucial for advancing forensic investigations.

Purpose of the Study:

To evaluate single-cell sequencing as a method for reliable DNA-based appearance prediction from DNA mixtures.
To assess the efficacy of combining single-cell separation with targeted sequencing panels for mixture deconvolution.
To determine if this approach can enable accurate phenotyping of individual contributors within forensic samples.

Main Methods:

Analysis of two mock DNA mixtures (two contributors each) using two distinct workflows.
Workflow 1: Direct sequencing of mixtures with the Ion AmpliSeq™ PhenoTrivium Panel (41 HIrisPlex-S markers) followed by HPS Deconvolution Tool analysis.
Workflow 2: Single-cell separation and collection using the DEPArray™ PLUS System, followed by PhenoTrivium amplification and phenotype prediction, compared against HPS Tool results.

Main Results:

Single-cell sequencing enabled nearly complete HIrisPlex-S profiles with accurate genotypes.
Reliable phenotype predictions were achieved for individual contributors within the analyzed mixtures.
The presented method successfully deconvoluted mixtures, demonstrating its potential for forensic applications.

Conclusions:

Single-cell sequencing combined with targeted panels offers a robust solution for DNA mixture deconvolution in forensic DNA phenotyping.
This approach overcomes significant obstacles in routine FDP, enabling accurate appearance predictions from complex samples.
The methodology holds promise for enhancing the capabilities of forensic investigations through advanced DNA analysis techniques.