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

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...

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

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%...

Confounding in Epidemiological Studies

Confounding in Epidemiological Studies

Confounding in statistical epidemiology represents a pivotal challenge, referring to the distortion in the perceived relationship between an exposure and an outcome due to the presence of a third variable, known as a confounder. This variable is associated with both the exposure and the outcome but is not a direct link in their causal chain. Its presence can lead to erroneous interpretations of the exposure's effect, either exaggerating or underestimating the true association. This...

Exon Recombination

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...

You might also read

Related Articles

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

Sort by

Same author

Mitochondria directly interact with the nuclear pore complex.

Nature·2026

Same author

Membrane-separated electrodes enable high-rate low-energy electrochemical carbon capture.

Science advances·2026

Same author

Protein Response to ACL Injury in Humans Show Early Cartilage Remodeling and Differences by Sex.

bioRxiv : the preprint server for biology·2026

Same author

The Transcription Factor 12 of Basic Helix-Loop-Helix Plays an Essential Role in Retinal Health.

Investigative ophthalmology & visual science·2026

Same author

Linkage between HLA-B8 and HLA-DQ2.5 Contributes to Ancestry-Dependent Genetic Risk for Celiac Disease.

medRxiv : the preprint server for health sciences·2026

Same author

Covalently sewing dual-sided Janus coatings <i>via</i> photoiniferter surface chain extension.

Materials horizons·2026

Same journal

From Pooled Cohorts to PREVENT: A Perspective for Clinical Laboratorians.

Clinical chemistry·2026

Same journal

Interlaboratory Comparison of a Glucagon and Oxyntomodulin Immuno-LC-MS/MS Assay: Implications for Diabetes Research.

Clinical chemistry·2026

Same journal

Comparison of Information-Dependent Acquisition and Sequential Window Acquisition of All Theoretical Mass Spectra for Untargeted Drug Testing on a Linear Ion Trap-Pulsing Quadrupole-Time of Flight Mass Spectrometer.

Clinical chemistry·2026

Same journal

Patterns of One-Year Change in HbA1c and Continuous Glucose Monitoring (CGM) Metrics in Older Adults with Type 2 Diabetes.

Clinical chemistry·2026

Same journal

TSH Pediatric Reference Intervals: Lack of CALIPER Applicability to US-Based Populations.

Clinical chemistry·2026

Same journal

Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing.

Clinical chemistry·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Dec 16, 2025

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

Clinical Exome Studies Have Inconsistent Coverage.

Garrett Gotway^1,2,3, Eric Crossley⁴, Julia Kozlitina¹

¹McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX.

Clinical Chemistry

|July 2, 2020

Summary

This summary is machine-generated.

Clinical exome sequencing data quality varies significantly between laboratories. This study found poor and inconsistent gene coverage across multiple clinical exome testing providers, impacting diagnostic reliability.

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

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

Related Experiment Videos

Last Updated: Dec 16, 2025

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

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

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

Area of Science:

Genomics
Clinical Diagnostics
Bioinformatics

Background:

Exome sequencing is a standard clinical diagnostic tool.
Previous studies focused on diagnostic utility and individual lab performance.
Data quality comparison across multiple clinical exome laboratories is lacking.

Purpose of the Study:

To compare data quality and gene coverage consistency across three clinical exome sequencing laboratories.
To identify variations in sequencing performance relevant to clinical diagnostics.

Main Methods:

Examined sequencing data from 36 clinical exome tests across three laboratories.
Compared data based on overall characteristics and coverage of specific genes and nucleotide positions.
Analyzed coverage for Consensus Coding Sequence (CCDS) genes, epilepsy-related genes, and secondary findings genes.

Main Results:

Nucleotide coverage varied, with one laboratory showing lower average coverage (91.68%).
Complete gene coverage consistency was poor, especially for smaller gene subsets like epilepsy and secondary findings (CV up to 71%).
Significant variability in the number of fully covered Consensus Coding Sequence genes was observed between laboratories.

Conclusions:

Clinical exome laboratories exhibit poor consistency in complete gene coverage.
The degree of data quality consistency differs widely among surveyed laboratories.
Variations in exome data quality may affect clinical diagnostic accuracy and reliability.