Related Experiment Video

Updated: Dec 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.5K

Correction: Clinical experience with carrier screening in a general population: support for a comprehensive

Maggie Westemeyer1, Jennifer Saucier1, Jody Wallace1

  • 1Natera, Inc., San Carlos, CA, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 3, 2020
PubMed

Abstract:

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

More Related Videos

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
06:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.1K
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

11.2K

Related Experiment Videos

Last Updated: Dec 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.5K
A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
06:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.1K
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

11.2K

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.5K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K

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

ctDNA for MRD assessment is prognostic and predictive in newly diagnosed and relapsed/refractory lymphoma.

Blood neoplasia·2026

Circulating Tumor DNA Status and Adjuvant Chemotherapy in Resected Colorectal Liver Metastases.

JAMA oncology·2026

Prognostic Implications of Personalized Circulating Tumor DNA Testing in Patients with Advanced Urothelial Carcinoma Treated with Enfortumab Vedotin ± Pembrolizumab.

European urology oncology·2026

A two-threshold donor-derived cell-free DNA algorithm improves detection of molecular rejection in heart transplantation.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation·2026

Post-adjuvant chemotherapy in ctDNA-positive patients with resected colorectal cancer: a randomized phase 3 trial.

Nature medicine·2026

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.

NPJ genomic medicine·2026

Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States.

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

P-KNN: joint calibration of multiple pathogenicity prediction tools streamlines variant classification.

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

The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen.

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

Patient and primary care clinician perspectives on polygenic risk scores for prostate cancer screening: a national qualitative study.

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

Short-term outcomes of a randomized, mixed-methods trial to improve hereditary cancer test results disclosure and follow-up communication with family.

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

Development of a simple clinical score to prioritize detection of severe alpha-1 antitrypsin deficiency with PiZZ genotype.

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

First validation of kdr-based pyrethroid resistance detection in the emerging vector Culex perexiguus.

Acta tropica·2026

Detecting poliovirus sequences in the sequence read archive database using bioinformatics tools.

Frontiers in bioinformatics·2026

PLAG1 Promotes Proliferation and Differentiation of Sujiang Pig MuSCs: Insights from Whole-Transcriptome and ceRNA Network Analyses.

Veterinary sciences·2026

Phenotypic and biochemical characterization of the class C β-lactamase, PAC-1.

The Journal of antimicrobial chemotherapy·2026

Folding states of transit peptides and mature peptides in the cytosol: implications for the import-competent state of preproteins.

Plant physiology·2026

Protocol for leveraging local ancestry and cross-ancestry genetic architecture to improve polygenic prediction in admixed populations.

STAR protocols·2026
See all related articles
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
Jove
Visualize
Contact Us