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...

You might also read

Related Articles

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

Sort by

Same author

UCHL1-Related Dominant Optic Atrophy: Report of Two New Families.

Neuro-ophthalmology (Aeolus Press)·2026

Same author

Australian parents' perspectives on extended genomic screening: what information to return and when?

European journal of human genetics : EJHG·2026

Same author

How parents decide whether to have genomic newborn screening: experiences from BabyScreen.

European journal of human genetics : EJHG·2026

Same author

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Nature medicine·2026

Same author

Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.

European journal of human genetics : EJHG·2026

Same author

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Nature reviews. Nephrology·2026

Search research articles

Related Experiment Video

Updated: Sep 16, 2025

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

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

Published on: June 21, 2018

Genomic Screening Consortium for Australian Newborns (GenSCAN).

Natalie Taylor¹, Michelle Pirreca^2,3, Bruce Bennetts^2,4

¹School of Population Health, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia.

Journal of Paediatrics and Child Health

|July 5, 2025

Summary

Genomic sequencing for newborn screening shows promise for early rare disease detection. Australia is exploring this through six studies, forming a consortium to share implementation experiences and inform future policy.

Keywords:

genetics genomics neonatology newborn screening rare disease

More Related Videos

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

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Related Experiment Videos

Last Updated: Sep 16, 2025

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

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

Published on: June 21, 2018

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

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Area of Science:

Genomics
Public Health
Rare Diseases

Background:

Genomic sequencing at population scale offers potential for early detection and precision medicine for rare diseases.
Integrating genomics into newborn screening presents challenges in technical feasibility, scalability, consent, and data management.
Empirical evidence from large-scale studies is crucial for guiding policy on genomic newborn screening.

Purpose of the Study:

To provide a narrative summary of ongoing genomic newborn screening studies in Australia.
To explore the application of genomic technologies within the newborn screening context.
To inform future policy decisions regarding the incorporation of genomic sequencing into newborn screening.

Main Methods:

A narrative summary approach was used.
Six research studies in Australia exploring genomic newborn screening were reviewed.
Formation of the Genomic Screening Consortium for Australian Newborns (GenSCAN) to share experiences.

Main Results:

Six distinct research studies are currently investigating genomic newborn screening in Australia.
These studies employ diverse methodologies to gather evidence on implementation.
A national consortium, GenSCAN, has been established for collective learning and experience sharing.

Conclusions:

Substantial national and international evidence will emerge over the next decade.
This evidence will guide policy decisions on integrating genomic sequencing into newborn screening.
The findings will contribute to improving outcomes for newborns through advanced screening technologies.