Related Experiment Video

Updated: Jun 4, 2025

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
10:00

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

17.5K

Genome Sequencing in the NICU and PICU Is Here to Stay

Eric P Hoffman1, Akanchha Kesari1

  • 1From the Department of Pharmaceutical Sciences (E.P.H.), Binghamton University-State University of New York, NY; and Clinical Laboratory (A.K.), Illumina, San Diego, CA.

Neurology
|December 19, 2024
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
00:09

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.3K

Related Experiment Videos

Last Updated: Jun 4, 2025

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
10:00

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

17.5K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
00:09

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.3K

Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

87.3K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
87.3K
RNA-seq03:21

RNA-seq

9.8K
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...
9.8K

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

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL-23/CD93 Pathways in Muscle.

American journal of medical genetics. Part A·2026

Prednisone, not vamorolone, suppresses novel serum bone and cartilage biomarkers associated with growth failure in children with Duchenne muscular dystrophy.

Scientific reports·2026

Preclinical efficacy of a gene therapy for CHKB-mediated muscular dystrophy.

Molecular therapy. Advances·2026

Vamorolone for Duchenne Muscular Dystrophy: A Cross-Trial Efficacy Comparison With Classic Corticosteroids From the FOR-DMD Trial.

Neurology·2026

Vamorolone Safety, Pharmacokinetics, and Exploratory Efficacy in Duchenne Muscular Dystrophy: A Phase II, Nonrandomized, Multiple-Dose Study in 2-<4-Year-Old Boys.

Neurology·2026

Results of a phase II open-label, multiple-dose study of vamorolone (VBP15-006) in 7- to < 18-year-old boys with duchenne muscular dystrophy.

Journal of neurology·2026

Natural Course and Clinical Outcomes of Patients With Hemorrhagic Moyamoya Disease: A Large Cohort Study.

Neurology·2026

Characteristics of Patients With Bibrachial Amyotrophy Due to Spontaneous Spinal CSF Leaks.

Neurology·2026

Clinical Reasoning: A 59-Year-Old Man With Delayed Electric Shock-Like Sensations After a Fall.

Neurology·2026

Metabolic Markers of MRI-Confirmed Lacunar Stroke: Observational and Mendelian Randomization Analyses.

Neurology·2026

Levodopa Use and Characteristics of Freezing-of-Gait in Patients With Parkinson Disease in the NS-Park and PPMI Cohorts.

Neurology·2026

Clinical Reasoning: A 60-Year-Old Diabetic Woman With Fluctuating Visual Disturbances.

Neurology·2026

Heterogeneity of azithromycin resistance markers in Neisseria gonorrhoeae and challenges in implementing molecular assays for routine surveillance.

New microbes and new infections·2026

Large-Scale Neuroimaging and Genetic Analyses of the Human Thalamus in Loneliness.

Biological psychiatry global open science·2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

Biochemistry and biophysics reports·2026

Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review.

Global medical genetics·2026

The genome sequence of the Lesser noctule, Nyctalus leisleri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Wellcome open research·2026

Additional PAX3 Variants for Dominant Blue Eyes in Cats.

Animal genetics·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