Related Experiment Video

Updated: Jun 21, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Improving estimates of loss-of-function constraint for short genes

Nicola Whiffin1

  • 1Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.

Nature Genetics
|July 15, 2024
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

8.9K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

Related Experiment Videos

Last Updated: Jun 21, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K
Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

8.9K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

Related Concept Videos

In-vitro Mutagenesis01:16

In-vitro Mutagenesis

13.9K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
13.9K

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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Nature genetics·2026

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Nature·2026

Modulating splicing in 5' untranslated regions to treat rare haploinsufficient disease.

bioRxiv : the preprint server for biology·2026

The role of untranslated region variants in Mendelian disease: a review.

European journal of human genetics : EJHG·2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nature genetics·2025

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

medRxiv : the preprint server for health sciences·2025

Rare variant effect estimation and polygenic risk prediction.

Nature genetics·2026

Spatial analysis of head and neck cancer identifies two ecosystems with distinct modes of epithelial-to-mesenchymal transition.

Nature genetics·2026

PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.

Nature genetics·2026

Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.

Nature genetics·2026

hnRNPK condensates facilitate enhancer-promoter looping and RNA polymerase II recruitment.

Nature genetics·2026

Plasticity of human microglia and brain perivascular macrophages in aging and Alzheimer's disease.

Nature genetics·2026

A biobank-scale method for learning modulators of gene-environment interaction underlying human complex traits from multiple environmental exposures.

Genome research·2026

A Bayesian multivariate spatial point pattern model: application to oral microbiome FISH image data.

Biostatistics (Oxford, England)·2026

Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing.

Diabetes care·2026

Integrative multi-omics and machine learning identify the SPI1-METTL16-PLIN4 axis as a candidate driver of steatosis in HepG2 cells.

Biochemical and biophysical research communications·2026

Coffea Comparative Genomics Reveals Subgenome-Associated Expansion and Diversification of Biosynthetic Gene Clusters.

Genome·2026

Integrated Machine Learning Approaches to Explore the Role of Glycosylation-Related Genes in Idiopathic Pulmonary Fibrosis.

Journal of visualized experiments : JoVE·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