Related Experiment Video
Updated: Feb 12, 2026
10:58
Quantitative and Automated High-throughput Genome-wide RNAi Screens in C. elegans
Published on: February 27, 2012
18.3K
Semi-automated genomic newborn screening highlights complexities in reporting
Ayesha Chowdhury1, Shashikanth Marri1, Lucy Anastasi1
1Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
NPJ Genomic Medicine
|February 10, 2026
Summary
Genomic newborn screening shows promise for early detection of treatable infant conditions. This validated workflow identified five reportable findings in a new cohort, aiding early intervention.
Area of Science:
- Genomics
- Medical Diagnostics
- Public Health
Background:
- Newborn screening programs are crucial for identifying treatable infant conditions early.
- Genomic approaches offer potential to broaden the scope of newborn screening.
- The NewbornsInSA study aimed to validate a genomic screening workflow.
Purpose of the Study:
- To validate a genomic newborn screening workflow for early detection of genetic disorders.
- To assess the performance of whole-genome sequencing analysis on a targeted gene panel.
- To develop automated bioinformatics tools for efficient case classification.
Main Methods:
- Whole-genome sequencing data analysis was focused on a virtual panel of 613 genes.
- Workflow performance was evaluated using retrospective samples with known genetic variant status.
- Bioinformatics scripts were created for automated classification of findings, reducing manual curation.
Main Results:
- The validated genomic workflow was applied to a prospectively recruited cohort.
- Five reportable genetic findings were identified in the prospective cohort.
- The study identified challenges in reporting variants associated with multiple conditions or incomplete penetrance.
Conclusions:
- The validated genomic workflow demonstrates feasibility for newborn screening.
- Early findings suggest the potential for genomic screening to identify treatable conditions.
- Addressing reporting complexities is essential for implementing genomic newborn screening effectively.
Related Concept Videos
02:02Genomics
40.9K
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...
40.9K
01:57Protein Complexes with Interchangeable Parts
2.9K
Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
2.9K
03:21Genome Size and the Evolution of New Genes
9.2K
While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
9.2K
02:30Genomic Imprinting and Inheritance
37.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.3K
01:24Data Reporting and Recording
5.5K
Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.5K
01:25Types of Reports I: Hands-off Report
1.6K
A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.6K