Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

(2021) Qiaowei Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction

(2020) Dong-Mei Chen et al.   CHINESE MEDICAL JOURNAL

Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers

(2020) Liangpu Xu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis

(2020) Ming-Li Xu et al.   HEMOGLOBIN

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

(2019) Haoqing Zhang et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Poly(A) inclusive RNA isoform sequencing (PAIso−seq) reveals wide-spread non-adenosine residues within RNA poly(A) tails

(2019) Yusheng Liu et al.   Nature Communications

Picky comprehensively detects high-resolution structural variants in nanopore long reads

(2018) Liang Gong et al.   NATURE METHODS

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

(2018) Simon Ardui et al.   NUCLEIC ACIDS RESEARCH

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

(2018) Alba Sanchis-Juan et al.   Genome Medicine

Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China

(2017) Sheng He et al.   GENE

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

(2017) Jing He et al.   GENETICS IN MEDICINE

Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations

(2017) Laurence Lodé et al.   HAEMATOLOGICA

Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program

(2017) Fan Jiang et al.   HEMOGLOBIN

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

(2017) Simon Ardui et al.   HUMAN MUTATION

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing

(2017) Daniel M. Borràs et al.   HUMAN MUTATION

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis

(2017) Qiuying Huang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations

(2017) Laurence Lodé et al.   HAEMATOLOGICA

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

(2017) Xuan Shang et al.   EBioMedicine

Population Screening for Hemoglobinopathies

(2016) H.W. Goonasekera et al.   Annual Review of Genomics and Human Genetics

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

(2016) Barnaby Clark et al.   BRITISH JOURNAL OF HAEMATOLOGY

Structural variation detection using next-generation sequencing data

(2016) Peiyong Guan et al.   METHODS

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

(2015) Lucia Cavelier et al.   BMC CANCER

Noninvasive Prenatal Testing by Nanopore Sequencing of Maternal Plasma DNA: Feasibility Assessment

(2015) S. H. Cheng et al.   CLINICAL CHEMISTRY

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

(2015) Karen N. McFarland et al.   PLoS One

The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China

(2014) Hongxia Yao et al.   BLOOD CELLS MOLECULES AND DISEASES

Next Generation Sequencing Identifies a Novel Rearrangement in theHBBCluster Permitting to-the-Base Characterization

(2014) Claire Shooter et al.   HUMAN MUTATION

The Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in 14,332 Families of Guangdong Province, China

(2014) Aihua Yin et al.   PLoS One

Significant haemoglobinopathies: guidelines for screening and diagnosis

(2010) Kate Ryan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China

(2010) F Xiong et al.   CLINICAL GENETICS

Assembly of large genomes using second-generation sequencing

(2010) M. C. Schatz et al.   GENOME RESEARCH

Association of   globin gene quadruplication and heterozygous   thalassemia in patients with thalassemia intermedia

(2009) M. C. Sollaino et al.   HAEMATOLOGICA

Continuous base identification for single-molecule nanopore DNA sequencing

(2009) James Clarke et al.   Nature Nanotechnology

Global epidemiology of haemoglobin disorders and derived service indicators

(2008) Bernadette Modell   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE