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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.9K
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%...
18.9K
Ethics and Bioethics01:22

Ethics and Bioethics

3.2K
Ethics is a philosophical study of moral actions. Ethics attempts to determine what is valuable for individuals and society. It examines the rational justification of moral judgments and analyzes what is morally just, fair, and right. Bioethics is a sub-discipline of applied ethics that analyzes the philosophical, social, and legal issues in life sciences and medicine. Ethical theories serve as a foundation for decision-making and represent the viewpoints from which people seek direction. They...
3.2K
Leaky Scanning02:28

Leaky Scanning

5.8K
During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
5.8K
Ethical Issues01:27

Ethical Issues

2.4K
Nurses are essential in patient care, upholding the ethical principles of their profession and effectively navigating ethical dilemmas. Neglecting ethical issues can lead to inadequate patient care, compromised therapeutic relationships, and moral distress among healthcare workers.
Ethical Concerns in Healthcare:
2.4K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

64
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
64
Ethical Dilemmas II01:30

Ethical Dilemmas II

2.6K
Resolving an ethical dilemma in healthcare involves a systematic approach that considers every aspect of the issue, respecting both the patient's needs and values and the healthcare professional's ethical obligations. Here are potential steps to resolve an ethical dilemma:
2.6K

You might also read

Related Articles

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

Sort by
Same author

Author Correction: Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function.

Nature neuroscience·2026
Same author

Guidance on communication and informed consent with patients and their families for experimental individualized treatments.

American journal of human genetics·2026
Same author

Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies.

Orphanet journal of rare diseases·2026
Same author

How variants of uncertain significance affect clinical decisions: A systematic review.

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

Understanding perspectives of safety-net NICU neonatologists disclosing genomic sequencing results: a mixed methods approach.

Journal of perinatology : official journal of the California Perinatal Association·2026
Same author

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

JAMA neurology·2026
Same journal

Estimates of European Ancestry in U.S. Hispanics Using <i>HFE</i> p.C282Y (c.845G>A; rs1800562), a Highly Informative Autosomal Marker.

Genetic testing and molecular biomarkers·2026
Same journal

ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations.

Genetic testing and molecular biomarkers·2026
Same journal

Identification of Key Genes and Clinical Feature Analyses of Epidermal Growth Factor Receptor Mutations in Lung Adenocarcinoma.

Genetic testing and molecular biomarkers·2026
Same journal

Genetic Basis of Atherosclerosis: The Role of PLAU Gene Polymorphism in Coronary Artery Disease.

Genetic testing and molecular biomarkers·2026
Same journal

Non-HLA Genetic Polymorphisms of Interleukin-17 and Interleukin-23 Receptor in Behcet's Syndrome.

Genetic testing and molecular biomarkers·2026
Same journal

<i>MTHFR</i> C677T and A1298C Gene Variants in Patients with Turner Syndrome and Their Mothers.

Genetic testing and molecular biomarkers·2026
See all related articles

Related Experiment Video

Updated: Mar 6, 2026

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

34.9K

From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation.

Ingrid A Holm1,2, Timothy W Yu1,2,3, Steven Joffe4,5,6

  • 11 Division of Genetics and Genomics, The Manton Center for Orphan Diseases Research , Boston Children's Hospital, Boston, Massachusetts.

Genetic Testing and Molecular Biomarkers
|March 18, 2017
PubMed
Summary
This summary is machine-generated.

Understanding human genomic data generation and interpretation is crucial for returning genetic research results. This overview covers technical steps and limitations, proposing an ethical framework for managing genetic information responsibly.

Keywords:
ethicsgene variantssequencing analysis

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Related Experiment Videos

Last Updated: Mar 6, 2026

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

34.9K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Area of Science:

  • Genomics
  • Bioinformatics
  • Medical Ethics

Background:

  • Returning genetic research results necessitates a clear understanding of data generation and interpretation processes.
  • Human genomic data is increasingly utilized in both clinical and research settings.

Purpose of the Study:

  • To provide an overview of the steps involved in generating and interpreting human genomic data.
  • To highlight technical, scientific, and clinical limitations in genomic data interpretation.
  • To discuss ethical considerations and propose a framework for managing genetic research results.

Main Methods:

  • DNA targeting methods
  • DNA sequencing
  • Genomic mapping
  • Variant calling
  • Data annotation
  • Interpretation of genomic data

Main Results:

  • Genomic data generation involves a multi-step process from DNA targeting to interpretation.
  • Technical, scientific, and clinical limitations introduce uncertainty into genotypic data interpretations.
  • Ethical issues arise in the generation and interpretation of human genomic data in research.

Conclusions:

  • A comprehensive understanding of genomic data workflows is essential for the responsible return of genetic research results.
  • An ethical framework can guide researchers in maximizing benefits while minimizing risks associated with genomic data.
  • Addressing limitations and ethical concerns is vital for advancing the use of human genomic data.