Related Experiment Video

Updated: Oct 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.2K

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards

Kok-Siong Poon1, Karen Mei-Ling Tan1

  • 1Department of Laboratory Medicine, National University Hospital Singapore, Singapore, Singapore.

Global Medical Genetics
|August 25, 2021
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.1K

Related Experiment Videos

Last Updated: Oct 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.1K

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.8K
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...
14.8K

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

Long-read sequencing and the boundary conditions for multi-hit reassurance in TP53-mutated myelodysplastic syndrome. Comment on: "Long-read sequencing resolves TP53 allelic status in myeloid neoplasms".

Haematologica·2026

Branched-chain and glucogenic amino acids predict brown fat recruitment and metabolic clearance in adults with overweight or obesity.

American journal of physiology. Endocrinology and metabolism·2026

Omega-3 PUFA concentrations in childhood prospectively associate with academic performance beyond a healthy diet: findings from the multiethnic Asian Growing Up in Singapore Towards healthy Outcomes cohort study.

The American journal of clinical nutrition·2026

Sexual dimorphism in the association of umbilical cord blood lipidome with abdominal fat in early childhood.

BMC medicine·2025

Characterisation of pregnancy-induced alterations in apolipoproteins and their associations with maternal metabolic risk factors and offspring birth outcomes: a preconception and longitudinal cohort study.

EBioMedicine·2025

Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study.

Genome medicine·2024

Epstein-Barr virus-associated T/NK-cell lymphoproliferative diseases with heterozygous IL10RA variants: two cases with pedigree analysis and a literature review.

Global medical genetics·2026

Cross-trait analysis reveals shared genetic architecture between mental health and cardiovascular traits.

Global medical genetics·2026

Toe walking in children with variants in myopathy-associated genes: A retrospective descriptive cohort study.

Global medical genetics·2026

Exploring EPHB4 in gait disorders: VUS detection and phenotypic characterization in a toe-walking cohort.

Global medical genetics·2026

GPI: A pan-cancer biomarker integrating genetic alterations, immune infiltration, and therapeutic response prediction.

Global medical genetics·2026

Corrigendum to "Global comprehensive transcriptomic and proteomic analyses of murine terminal erythroid differentiation" [Glob. Med. Genet. 12 (2025) 100083].

Global medical genetics·2026

Integrating multiplex digital PCR and long-read sequencing toward standardized genome integrity and purity characterization of rAAV9.

Molecular therapy. Advances·2026

Whole genome sequencing identifies genetic variants associated with senescence-accelerated phenotype of OXYS rats.

Vavilovskii zhurnal genetiki i selektsii·2026

Temporal organization of leptin signaling reveals distinct regulatory roles for STAT3 and ETV6.

Journal of molecular endocrinology·2026

Diffusion-Relaxation Correlation Spectroscopic MRI in Adult Gliomas: Spectral Heterogeneity and Associations With Histomolecular Features.

Journal of magnetic resonance imaging : JMRI·2026

Apparent methylation of mitochondrial DNA in WGBS is dominated by technical artifacts.

Epigenetics & chromatin·2026

A large palindromic segmental duplication on mouse chromosome 12 marks an evolutionarily fragile genomic interval.

BMC genomics·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