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

Genomics02:02

Genomics

36.8K
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...
36.8K
Next-generation Sequencing03:00

Next-generation Sequencing

92.1K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
92.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.9K
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...
13.9K
Sensitivity, Specificity, and Predicted Value01:13

Sensitivity, Specificity, and Predicted Value

598
In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
Sensitivity is the...
598

You might also read

Related Articles

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

Sort by
Same author

Dedifferentiated Osteosarcoma of the Wrist With BCOR Sarcoma Component in a 22-Year-Old Patient: A Case Report.

Case reports in orthopedics·2026
Same author

Risk Stratification of Pediatric Thyroid Nodules Using Adult Thyroid Nodule Scoring Systems:American Thyroid Association and American College of Radiology Thyroid Imaging Reporting and Data System.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·2026
Same author

The Molecular Heterogeneity of NRAS Variants in Thyroid Nodules.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery·2026
Same author

The relationship between microscopic margin positivity and disease recurrence in differentiated thyroid cancer.

Surgery·2026
Same author

Data Harmonization for Collaborative Research Among Australian and US Registries: A Case Study in Medullary Thyroid Cancer (MTC).

World journal of surgery·2026
Same author

Electronic Health Record-Based Screening for Primary Aldosteronism in a Large Academic System.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·2026

Related Experiment Video

Updated: Aug 18, 2025

qPCRTag Analysis - A High Throughput, Real Time PCR Assay for Sc2.0 Genotyping
07:00

qPCRTag Analysis - A High Throughput, Real Time PCR Assay for Sc2.0 Genotyping

Published on: May 25, 2015

17.2K

Real-World Performance of the Afirma Genomic Sequencing Classifier (GSC)-A Meta-analysis.

Christian E Nasr1, Massimiliano Andrioli2, Mayumi Endo3

  • 1University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.

The Journal of Clinical Endocrinology and Metabolism
|December 5, 2022
PubMed
Summary

Real-world Afirma GSC performance in thyroid nodule risk stratification shows improved specificity and predictive values compared to validation studies. This higher benign call rate may lead to more observation and fewer unnecessary surgeries.

Keywords:
benign call rategenomic sequencing classifierindeterminate thyroid nodulereal worldrisk of malignancy

More Related Videos

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

33.9K
High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq
09:06

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

10.3K

Related Experiment Videos

Last Updated: Aug 18, 2025

qPCRTag Analysis - A High Throughput, Real Time PCR Assay for Sc2.0 Genotyping
07:00

qPCRTag Analysis - A High Throughput, Real Time PCR Assay for Sc2.0 Genotyping

Published on: May 25, 2015

17.2K
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

33.9K
High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq
09:06

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

10.3K

Area of Science:

  • Endocrinology
  • Oncology
  • Molecular Diagnostics

Background:

  • The Afirma Gene Signature Classifier (GSC) is used for risk stratifying indeterminate thyroid nodules.
  • Previous validation studies (VS) established baseline performance metrics for the GSC.
  • Numerous independent real-world (RW) studies have since been published, necessitating a performance comparison.

Approach:

  • This study compared the performance of the Afirma GSC in real-world (RW) studies against its original validation study (VS) metrics.
  • Specific assumptions were applied for analyzing surgical histology data and handling unoperated patients.
  • Statistical significance was assessed for performance metrics and benign call rate (BCR).

Key Points:

  • Real-world Afirma GSC demonstrated higher observed specificity (oSP) of 88% and observed positive predictive value (oPPV) of 65% compared to VS metrics (68% SP, 47% PPV).
  • Real-world performance also showed a higher conservative specificity (cSP) of 80% and conservative positive predictive value (cPPV) of 49%.
  • The benign call rate (BCR) was significantly higher in RW studies (67%) versus VS (54%), indicating more nodules were classified as benign.

Conclusions:

  • Real-world data indicates the Afirma GSC has significantly improved specificity and predictive value performance compared to its validation study.
  • The increased BCR in real-world settings suggests a greater likelihood of clinical observation for thyroid nodules.
  • These findings support the Afirma GSC's utility in refining thyroid nodule management, potentially reducing unnecessary surgeries.