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

Genomics

Genomics

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...

Fischer Projections

Fischer Projections

Learning to draw Fischer projections of molecules and understanding their relevance plays a crucial role in the visual depiction of organic molecules. A Fischer projection is a two-dimensional projection on a planar surface to simplify the three-dimensional wedge–dash representation of molecules. This is especially helpful in the case of molecules with multiple chiral centers that can be difficult to draw. Here, all the bonds of interest are represented as horizontal or vertical lines. While...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

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...

Newman Projections

Newman Projections

Different notations are used to represent the three-dimensional structure of molecules on two-dimensional surfaces. One of the most commonly used representations is the dash-wedge formula. The dashed wedges, solid wedges, and the plane lines indicate the groups situated behind the plane, coming out of the plane, and in the plane, respectively.
The organic molecules rotate across the single bonds leading to numerous temporary three-dimensional structures of varying energy known as...

Genome Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

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.

Nursing Implementation

Nursing Implementation

Implementation is the execution of the nursing care plan developed during the planning phase.
The five steps to implementing effective nursing care include reassessing the patient, reviewing and revising the existing nursing care plan, organizing the resources and care delivery, anticipating and preventing complications, and implementing nursing interventions.

You might also read

Related Articles

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

Sort by

Same author

Use of organ transplant solution to preserve skeletal muscle for cellular and spatial transcriptomic analyses.

Scientific reports·2026

Same author

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026

Same author

Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.

Genes·2026

Same author

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

Annals of clinical and translational neurology·2026

Same author

Characterizing core outcomes of responsible stewardship for human genomic data in the cloud.

BMC medical genomics·2026

Same author

Ethical and Regulatory Considerations for Developing Gene Therapies Involving Genome Editing.

Human gene therapy·2026

Search research articles

Related Experiment Video

Updated: Feb 8, 2026

Novel Sequence Discovery by Subtractive Genomics

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

The BabySeq project: implementing genomic sequencing in newborns.

Ingrid A Holm^1,2, Pankaj B Agrawal^3,4,5, Ozge Ceyhan-Birsoy^6,7,8

¹Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.

|July 11, 2018

Summary

The BabySeq Project investigates the impact of genomic sequencing in newborns. This study provides crucial data on the risks, benefits, and costs of newborn genomic screening for future policy decisions.

Keywords:

Ethical, legal, social implications Methods Newborn screening Newborn sequencing Randomized trial Whole exome sequencing

More Related Videos

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Published on: May 9, 2011

Related Experiment Videos

Last Updated: Feb 8, 2026

Novel Sequence Discovery by Subtractive Genomics

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Published on: May 9, 2011

Area of Science:

Genomics
Pediatric Medicine
Bioethics

Background:

Genomic sequencing offers significant lifelong impact opportunities, particularly during the newborn period.
The BabySeq Project is a randomized trial examining the integration of genomic sequencing into newborn care.

Purpose of the Study:

To explore the medical, behavioral, and economic impacts of genomic sequencing in healthy and sick newborns.
To gather empirical data on the risks, benefits, and costs associated with newborn genomic sequencing.
To inform policy decisions regarding universal genomic screening for newborns.

Main Methods:

Enrollment of newborn families from two major hospitals.
Randomization of participants into sequencing and control groups.
Collection of outcomes via medical record review and parent/provider surveys, including analysis of reported genomic variants and their impact on medical management.

Main Results:

Data collection focuses on the rationale for variant selection, the contribution of genomic data to infant medical management, and the overall impacts of sequencing.
Analysis of medical, behavioral, and economic outcomes for families receiving genomic sequencing results.

Conclusions:

The BabySeq Project will yield essential empirical data on the implications of newborn genomic sequencing.
Findings will guide policy development for widespread genomic screening in newborns.