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

RNA-seq03:21

RNA-seq

12.3K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
12.3K
Sanger Sequencing01:57

Sanger Sequencing

776.5K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
776.5K

You might also read

Related Articles

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

Sort by
Same author

Circulating Cell-Free DNA Analysis for Diagnostic and Prognostic Assessment of Hepatocellular Carcinoma in Cirrhosis.

International journal of molecular sciences·2026
Same author

On the state of protein function prediction: a report on the fourth CAFA challenge.

bioRxiv : the preprint server for biology·2026
Same author

EPIMETRIC: A cfDNA Methylation-Based Algorithm for COPD Diagnosis and Stratification.

Archivos de bronconeumologia·2026
Same author

Ten-year subtype survival and systemic-therapy pathways analysis after breast-cancer recurrence in the LACRN MPBC multicountry cohort study.

Lancet regional health. Americas·2026
Same author

Challenges in Launching a Precision Pediatric Oncology Program in Argentina.

Pediatric blood & cancer·2026
Same author

Development and Validation of a Targeted Metabolomic Tool for Metabotype Classification in Schoolchildren.

Metabolites·2026

Related Experiment Video

Updated: Mar 7, 2026

Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
05:07

Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes

Published on: November 7, 2025

470

TarSeqQC: Quality control on targeted sequencing experiments in R.

Gabriela A Merino1,2, Yanina A Murua3, Cristóbal Fresno1

  • 1Ua Area Cs. Agr. Ing. Bio. Y S, Conicet, Universidad Católica de Córdoba, Córdoba, Argentina.

Human Mutation
|February 26, 2017
PubMed
Summary

TarSeqQC is a new R package for quality control in targeted sequencing (TS) experiments. It helps researchers identify issues with gene coverage, improving the accuracy of genomic variant detection for disease diagnosis.

Keywords:
Cancer panelR packageexperiment performancemedical geneticsquality controltargeted sequencing

More Related Videos

Optimization for Sequencing and Analysis of Degraded FFPE-RNA Samples
07:30

Optimization for Sequencing and Analysis of Degraded FFPE-RNA Samples

Published on: June 8, 2020

12.9K
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 7, 2026

Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
05:07

Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes

Published on: November 7, 2025

470
Optimization for Sequencing and Analysis of Degraded FFPE-RNA Samples
07:30

Optimization for Sequencing and Analysis of Degraded FFPE-RNA Samples

Published on: June 8, 2020

12.9K
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:

  • Bioinformatics
  • Genetics
  • Molecular Biology

Background:

  • Targeted sequencing (TS) is crucial for identifying genomic alterations in human diseases.
  • Current variant calling in TS relies on coverage, which can miss important clinical variants.
  • Existing quality control tools are primarily designed for whole-genome sequencing, not TS.

Purpose of the Study:

  • To introduce TarSeqQC, an R package for quality control in targeted sequencing experiments.
  • To assess experiment, gene, and genomic region performance based on sequencing coverage.
  • To enhance the accuracy of variant detection in medical and research genetics.

Main Methods:

  • Development of the TarSeqQC R package, available on Bioconductor.
  • Application of TarSeqQC to analyze two targeted sequencing datasets.
  • Evaluation of primer pool performance and read count profiles.

Main Results:

  • TarSeqQC identified low-performance primer pools and other experimental issues.
  • The package effectively enhanced the quality of experimental results.
  • Read count profiles revealed TarSeqQC's utility as an exploration tool.

Conclusions:

  • TarSeqQC provides essential quality control for targeted sequencing experiments.
  • This tool can prevent erroneous medical conclusions by ensuring variant detection accuracy.
  • TarSeqQC is a valuable bioinformatic resource for routine TS in research and clinical genetics.