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

Pedigree Analysis

Pedigree Analysis

Human Genetics

Human Genetics

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...

Incomplete Dominance

Incomplete Dominance

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.

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

You might also read

Related Articles

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

Sort by

Same author

SiteCELL enables <i>on-site</i> PBMCs purification and cryopreservation for immune single-cell profiling of underrepresented ancestries.

iScience·2026

Same author

Causative Role for a BRCA2 Germline Pathogenic Variant in External Auditory Canal Squamous Cell Carcinoma.

Genes, chromosomes & cancer·2026

Same author

A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer.

BJC reports·2026

Same author

Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes.

BMC medical genomics·2026

Same author

Ancestry and somatic profile indicate acral melanoma origin and prognosis.

Nature·2026

Same author

Identifying genes and pathways in familial lymphoid cancers using whole exome sequencing.

Leukemia & lymphoma·2026

Search research articles

Related Experiment Video

Updated: Jun 24, 2025

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

Variant ranking pipeline for complex familial disorders.

Sneha Ralli^1,2, Tariq Vira¹, Carla Daniela Robles-Espinoza³

¹Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, V5Z 1L3, Canada.

Scientific Reports

|June 12, 2024

Summary

We developed the Weights-based vAriant Ranking in Pedigrees (WARP) pipeline to identify genetic factors for complex diseases. WARP prioritizes genetic variants by combining multiple weighting factors, aiding in gene discovery.

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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

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

Published on: August 15, 2019

Related Experiment Videos

Last Updated: Jun 24, 2025

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

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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

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

Published on: August 15, 2019

Area of Science:

Genetics
Bioinformatics
Computational Biology

Background:

Identifying genetic susceptibility factors for complex disorders is challenging due to genetic heterogeneity.
Existing methods may not effectively analyze diverse pedigree collections (small and large).

Purpose of the Study:

To develop and validate a novel computational pipeline, WARP, for prioritizing genetic variants and genes in complex disorders.
To improve the identification of disease-associated genes across various family structures.

Main Methods:

Developed the Weights-based vAriant Ranking in Pedigrees (WARP) pipeline.
WARP utilizes five weighted factors: disease incidence, family case count, shared genome fraction, allele frequency, and variant deleteriousness.
Variants are ranked using a multiplicative combination of weights, averaged across families to generate a multifamily weight.

Main Results:

The WARP pipeline successfully identified known melanoma genes (POT1, MITF, BAP1) in 31% of familial melanoma cases studied.
Analysis revealed potentially novel candidate genes for melanoma in the remaining families.
The pipeline demonstrated effectiveness in prioritizing variants and genes for further investigation.

Conclusions:

The WARP pipeline offers a robust approach for identifying disease-predisposing genes in studies involving both small and large pedigrees.
This method enhances the ability to detect genetic factors in genetically heterogeneous complex disorders.
WARP provides a valuable tool for genetic research and gene discovery in inherited diseases.