Related Experiment Video

Updated: Apr 10, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.5K

First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third

Lixian Zhang1, Jianlong Zhuang2, Nan Huang3

  • 1Neonatal Disease Screening Department, Putian Maternal and Child Health Care Hospital, The Affiliated Hospital (Group) of Putian University, 351100, Putian, China.

Annals of Hematology
|April 9, 2026
PubMed
Summary

No abstract available in PubMed .

Keywords:
Hb variantsMolecular diagnosisSanger sequencingThalassemiaThird-generation sequencing

More Related Videos

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K

Related Experiment Videos

Last Updated: Apr 10, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.5K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
20.0K

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

Prenatal Etiology Diagnosis of Rare Compound Heterozygous PROC Gene Variants in a Fetus With Ocular Ultrasonic Anomaly Using Whole Exome Sequencing.

Molecular genetics & genomic medicine·2026

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8.

Molecular genetics & genomic medicine·2026

Development and Validation of a Cytochrome C Oxidase Subunit 6B2-Based Risk Model for Cholangiocarcinoma Recurrence.

JCO precision oncology·2026

Adjunctive intra-arterial alteplase after near-complete or complete reperfusion in acute ischemic stroke: A post hoc analysis of the PEARL Trial.

International journal of stroke : official journal of the International Stroke Society·2026

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.

Frontiers in pediatrics·2026

Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing.

Human mutation·2026

Therapeutic Advances in Adult B-cell Acute Lymphoblastic Leukemia with KMT2A Rearrangements.

Annals of hematology·2026

A mortality model for relapsed or refractory multiple myeloma: emulation of subjective life expectancy criteria from a clinical trial in real-world data.

Annals of hematology·2026

Long-term follow-up of ruxolitinib pre-approval use in acute and chronic graft-versus-host disease.

Annals of hematology·2026

30 years in service, 1996-2026: Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO).

Annals of hematology·2026

Spontaneous regression of B-cell acute lymphoblastic leukemia with PAX5 alterations at relapse: a case report.

Annals of hematology·2026

Association between proton pump inhibitor co-medication and treatment switching in dasatinib-treated patients with chronic myeloid leukemia: a German real-world evidence study.

Annals of hematology·2026

Development and application of a novel TaqMan qPCR assay targeting the gN gene for genotyping pseudorabies virus.

Journal of Zhejiang University. Science. B·2026

Whole genome sequence data of thermotolerant Pseudobacillus badius strain WCB-1 isolated from Kawah Putih Indonesia.

Data in brief·2026

Long-term risk prediction of diabetes mellitus using the 100-g oral glucose tolerance test during pregnancy: Insights into test patterns, single abnormal values, and abnormal fasting glucose.

Pregnancy (Hoboken, N.J.)·2026

BIGS: An integrated genomic selection platform for Brassica napus breeding.

Plant communications·2026

A chromosome scale reference genome of an arid adapted ungulate, Gazella subgutturosa.

The Journal of heredity·2026

Draft genome of Streptomyces species VRG-4 isolated from leaf cutter ants of Uttarakhand.

Microbiology resource announcements·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