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...

You might also read

Related Articles

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

Sort by

Same author

Rapid On-Site Next-Generation Sequencing: An Alternative to Single-Gene and Send-Out Testing in Non-Small Cell Lung Cancer and Colorectal Cancer in a Community Pathology Laboratory Setting.

The Journal of molecular diagnostics : JMD·2026

Same author

Implantable Microdevices for In Vivo Assessment of Chemotherapy Response in Patient Derived Organoid Orthotopic Pancreatic Cancer Models.

Annals of surgery·2026

Same author

New histopathological terminology for well-differentiated hepatocellular lesions in unusual clinico-pathological scenarios: HCA-like and FNH-like.

JHEP reports : innovation in hepatology·2026

Same author

An Introduction to AI for Clinicians: Tutorial.

Interactive journal of medical research·2026

Same author

Retrospective Comparison of Operational Metrics Across Diagnostic Approaches for Molecular Testing in Lung and Colon Cancers in a Community-Based Setting.

Archives of pathology & laboratory medicine·2026

Same author

Utility of pancreatic tumor scrapings for organoid development and precision medicine strategies.

The Journal of pathology·2026

Same journal

Assessing Human Epidermal Growth Factor Receptor 2 in Urothelial Carcinoma: Insights From Clinical Practice Into Scoring Criteria, Histologic Subtypes, and Genomic Characteristics Across Disease Sites.

Archives of pathology & laboratory medicine·2026

Same journal

Cross-Reactivity of TPIT Antibody Clone OTI2G1 in Chordoma: Structural Mechanisms and Diagnostic Implications.

Archives of pathology & laboratory medicine·2026

Same journal

Paracoccidioidomycosis at Autopsy: A Case Series and Literature Review.

Archives of pathology & laboratory medicine·2026

Same journal

Accuracy of Cytology Diagnosis for Well Differentiated Neuroendocrine Tumors: Assessment by the College of American Pathologists Non-Gynecologic Slide Program.

Archives of pathology & laboratory medicine·2026

Same journal

Serum Immunofixation Electrophoresis Guidance Conflict: A Call to Harmonize.

Archives of pathology & laboratory medicine·2026

Same journal

In Reply.

Archives of pathology & laboratory medicine·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Mar 31, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Standards for Clinical Grade Genomic Databases.

Sophia L Yohe, Alexis B Carter, John D Pfeifer

¹From the Department of Laboratory Medicine and Pathology, University of Minnesota Medical Center, Minneapolis (Dr Yohe); the Department of Pathology and Laboratory Medicine and the Department of Biomedical Informatics, Emory University, Atlanta, Georgia (Dr Carter); the Department of Pathology, Washington University School of Medicine, St. Louis, Missouri (Dr Pfeifer); the Department of Pathology and Laboratory Medicine, Hofstra North Shore-Long Island Jewish School of Medicine, Hempstead, New York (Dr Crawford); the Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha (Dr Cushman-Vokoun); the MAWD Pathology Group, North Kansas City, Missouri (Dr Caughron); and the Department of Pathology and Laboratory Medicine, University of Vermont College of Medicine, Burlington (Dr Leonard).

Archives of Pathology & Laboratory Medicine

|October 31, 2015

Summary

This summary is machine-generated.

Clinical-grade genomic databases (CGGDs) are essential for accurate variant classification in next-generation sequencing. This study defines CGGDs and proposes a framework for their structure and use in patient care.

More Related Videos

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

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

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

Published on: January 16, 2019

Related Experiment Videos

Last Updated: Mar 31, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

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

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

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

Published on: January 16, 2019

Area of Science:

Genomic Medicine
Clinical Informatics

Background:

Next-generation sequencing (NGS) in clinical settings demands high reproducibility.
Clinical-grade genomic databases (CGGDs) are crucial for variant classification and interpretation in clinical NGS.
Standardizing reference databases for NGS variant interpretation poses validation and curation challenges.

Purpose of the Study:

Define Clinical-Grade Genomic Databases (CGGDs).
Categorize information within CGGDs.
Develop recommendations for CGGD structure and clinical application.

Main Methods:

Literature review and analysis of existing genomic databases.
Framework development by the College of American Pathologists Personalized Health Care Committee.
Expert consensus on CGGD requirements.

Main Results:

CGGDs encompass three distinct layers: clinical genomic variant repositories, genomic medical data repositories, and genomic medicine evidence databases.
Layers are differentiated by data type and utility in clinical variant interpretation.
CGGDs require stringent standards for data submission, curation, retrieval, privacy, and security.

Conclusions:

Established organizing principles for CGGDs provide a foundation for future standard development.
Standardized CGGDs are vital for supporting patient care through reliable genomic data interpretation.
This framework guides the evolution of clinical-grade genomic databases.