Third-generation sequencing for genetic disease

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

(2023) Xiao Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia

(2023) Renliang Huang et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing

(2023) Olga Tsuiko et al.   HUMAN REPRODUCTION

Identification of rare thalassemia variants using third-generation sequencing

(2023) Qin Liu et al.   Frontiers in Genetics

Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis

(2023) Runhong Xu et al.   CLINICAL BIOCHEMISTRY

In Vitro FVIII-Encoding Transgenic Mesenchymal Stem Cells Maintain Successful Coagulation in FVIII-Deficient Plasma Mimicking Hemophilia A

(2023) Cansu Hemşinlioğlu et al.   Turkish Journal of Hematology

Long-read sequencing identifies novel structural variations in colorectal cancer

(2023) Luming Xu et al.   PLoS Genetics

A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing

(2023) Jinlong Zou et al.   Frontiers in Genetics

Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China

(2023) Yan Yuan et al.   Frontiers in Genetics

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia

(2023) Ahsen Chaudhry et al.   Circulation-Genomic and Precision Medicine

Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia

(2023) Huijun Li et al.   CLINICA CHIMICA ACTA

Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results

(2023) Mingkun Shao et al.   Frontiers in Medicine

Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia

(2022) Haitao Wu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China

(2022) Xu Chen et al.   CLINICA CHIMICA ACTA

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

(2022) Fan Jiang et al.   GENE

Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing

(2022) Shuyuan Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Detection of Structural Variations and Fusion Genes in Breast Cancer Samples Using Third-Generation Sequencing

(2022) Taobo Hu et al.   Frontiers in Cell and Developmental Biology

Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population

(2022) Jianlong Zhuang et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization

(2022) Zeyan Zhong et al.   CLINICAL BIOCHEMISTRY

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing

(2022) Yingdi Liu et al.   CLINICAL CHEMISTRY

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

(2022) Lisa J. Ewans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Thalassaemia

(2022) Antonis Kattamis et al.   LANCET

Analysis of rare thalassemia genetic variants based on third-generation sequencing

(2022) Cuiting Peng et al.   Scientific Reports

Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics

(2022) Xiaoni Fu et al.   BIOTECHNIQUES

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing

(2022) Qiaowei Liang et al.   CLINICAL CHEMISTRY

Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review

(2022) Qunfeng Wang et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Detection of hemoglobin H disease by long molecule sequencing

(2022) Youqiong Li et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

(2022) Guoxing Zhong et al.   Frontiers in Genetics

Detection of four rare thalassemia variants using Single-molecule realtime sequencing

(2022) Shiqiang Luo et al.   Frontiers in Genetics

Accurate genotype diagnosis of Hong Kongαα thalassemia based on third-generation sequencing

(2022) Jun Li et al.   Annals of Translational Medicine

Clinical Perspective on Use of Long-Read Sequencing in Prenatal Diagnosis of Thalassemia

(2022) Diana M Toledo et al.   CLINICAL CHEMISTRY

Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia

(2022) Qiaowei Liang et al.   CLINICAL CHEMISTRY

Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing

(2022) Youqiong Li et al.   CLINICAL BIOCHEMISTRY

Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries

(2021) Hyuna Sung et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Challenges in the application of NGS in the clinical laboratory

(2021) Yuxin Yin et al.   HUMAN IMMUNOLOGY

Next-generation sequencing technologies: An overview

(2021) Taishan Hu et al.   HUMAN IMMUNOLOGY

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

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

The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees

(2021) Juanjuan Chen et al.   THROMBOSIS RESEARCH

Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency

(2021) Russell J. Butterfield   Seminars in Pediatric Neurology

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

(2021) Marilena Melas et al.   HUMAN MUTATION

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

(2021) Shiqiang Luo et al.   JOURNAL OF HUMAN GENETICS

Single-molecule sequencing reveals a large population of long cell-free DNA molecules in maternal plasma

(2021) Stephanie C. Y. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Advances in the management of α-thalassemia major: reasons to be optimistic

(2021) Paulina Horvei et al.   Hematology-American Society of Hematology Education Program

Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China

(2021) Lin Zheng et al.   International Journal of General Medicine

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

(2020) Xiao Chen et al.   GENETICS IN MEDICINE

Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China

(2020) Jianghong Zhao et al.   JOURNAL OF CLINICAL PATHOLOGY

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

(2020) Duarte Pignatelli et al.   Frontiers in Endocrinology

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

(2020) Jingjing Zhang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Long-read human genome sequencing and its applications

(2020) Glennis A. Logsdon et al.   NATURE REVIEWS GENETICS

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

(2020) Renee Carroll et al.   European Journal of Medical Genetics

Long-read sequencing in deciphering human genetics to a greater depth

(2019) Mohit K. Midha et al.   HUMAN GENETICS

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck 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

The Third Revolution in Sequencing Technology

(2018) Erwin L. van Dijk et al.   TRENDS IN GENETICS

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy

(2018) Noemi Vidal-Folch et al.   CLINICAL CHEMISTRY

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases

(2018) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Molecular diagnosis of α-thalassemia in a multiethnic population

(2017) Oded Gilad et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

DNA sequencing at 40: past, present and future

(2017) Jay Shendure et al.   NATURE

RNA-Seq differential expression analysis: An extended review and a software tool

(2017) Juliana Costa-Silva et al.   PLoS One

Advancements in Next-Generation Sequencing

(2016) Shawn E. Levy et al.   Annual Review of Genomics and Human Genetics

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   HUMAN GENETICS

Real-time, portable genome sequencing for Ebola surveillance

(2016) Joshua Quick et al.   NATURE

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Long-read sequence assembly of the gorilla genome

(2016) D. Gordon et al.   SCIENCE

Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges

(2015) Sabine Hoffjan   MOLECULAR AND CELLULAR PROBES

PacBio Sequencing and Its Applications

(2015) Anthony Rhoads et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reducing assembly complexity of microbial genomes with single-molecule sequencing

(2013) Sergey Koren et al.   GENOME BIOLOGY

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency

(2011) W. Chen et al.   CLINICAL CHEMISTRY

Repetitive DNA and next-generation sequencing: computational challenges and solutions

(2011) Todd J. Treangen et al.   NATURE REVIEWS GENETICS

Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material

(2008) Karina Meden Sørensen et al.   ANALYTICAL CHEMISTRY

Detection of large duplications within the factor VIII gene by MLPA1

(2008) S. ROST et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involvingint22handint1hhotspots in the factor VIII gene

(2008) L. C. ROSSETTI et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?

(2008) Bernhard G. Zimmermann et al.   PRENATAL DIAGNOSIS

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE