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...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Genetic Material

Genetic Material

Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.

Genomic DNA in Eukaryotes

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.

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...

Complementary DNA

Complementary DNA

You might also read

Related Articles

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

Sort by

Same author

Non-Parametric Ancestry Adjustment for Polygenic Scores.

medRxiv : the preprint server for health sciences·2026

Same author

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

medRxiv : the preprint server for health sciences·2026

Same author

The landscape of genomic and socioeconomic variables in colorectal cancer patients based on genetic ancestry.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2026

Same author

Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.

Prenatal diagnosis·2026

Same author

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

EBioMedicine·2026

Same author

Response to Deuitch et al.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same journal

Ebola at 50 - Lessons for Outbreak Response and Preparedness.

The New England journal of medicine·2026

Same journal

Ianalumab plus Eltrombopag in Immune Thrombocytopenia. Reply.

The New England journal of medicine·2026

Same journal

Ianalumab plus Eltrombopag in Immune Thrombocytopenia.

The New England journal of medicine·2026

Same journal

Hypertension Control in Low-Income Patients. Reply.

The New England journal of medicine·2026

Same journal

Hypertension Control in Low-Income Patients.

The New England journal of medicine·2026

Same journal

Hypertension Control in Low-Income Patients.

The New England journal of medicine·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Apr 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

ClinGen--the Clinical Genome Resource.

Heidi L Rehm¹, Jonathan S Berg, Lisa D Brooks

¹From Harvard Medical School and Brigham and Women's Hospital and Partners HealthCare - all in Boston (H.L.R.); University of North Carolina, Chapel Hill (J.S.B., J.P.E.); National Human Genome Research Institute, National Institutes of Health (NIH) (L.D.B., E.M.R.), National Center for Biotechnology Information, National Library of Medicine, NIH (M.J.L., D.R.M., S.T.S.), and American College of Medical Genetics and Genomics (M.S.W.) - all in Bethesda, MD; Stanford University School of Medicine, Stanford (C.D.B.), and University of California, San Francisco, San Francisco (R.L.N.) - both in California; Geisinger Health System, Danville, PA (D.H.L., C.L.M.); and Baylor College of Medicine, Houston (S.E.P.).

The New England Journal of Medicine

|May 28, 2015

Summary

This summary is machine-generated.

Genetic testing for hypertrophic cardiomyopathy (HCM) can change over time. Reinterpreting genetic variants and retesting family members is crucial for accurate risk assessment and timely intervention in inherited cardiac conditions.

More Related Videos

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Published on: May 9, 2011

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

Related Experiment Videos

Last Updated: Apr 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Published on: May 9, 2011

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

Area of Science:

Cardiovascular Genetics
Medical Diagnostics
Genomic Medicine

Background:

Hypertrophic cardiomyopathy (HCM) is a primary genetic heart muscle disease.
Genetic testing plays a role in diagnosing HCM and assessing familial risk.
The interpretation of genetic variants can evolve with new data.

Purpose of the Study:

To illustrate the clinical implications of reclassifying genetic variants.
To highlight the importance of ongoing genetic variant assessment in inherited cardiovascular diseases.
To emphasize the dynamic nature of genetic information in clinical practice.

Main Methods:

Initial genetic testing for a likely pathogenic variant in HCM.
Re-evaluation of the genetic variant's classification using updated population data.
Subsequent genetic testing with expanded panels identifying a different pathogenic variant.

Main Results:

An initially identified 'likely pathogenic' variant was reclassified as 'likely benign'.
A previously negative family member tested positive for a newly identified pathogenic variant.
Clinical workup confirmed cardiomyopathy in the newly positive individual, leading to ICD implantation.

Conclusions:

Genetic variant interpretation is not static and requires ongoing review.
Dynamic reclassification of genetic variants necessitates re-evaluation of familial risk.
Accurate genetic risk assessment is critical for timely clinical management and prevention of adverse outcomes in HCM.