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

Successful four-factor preimplantation genetic testing: α- and β-thalassemia, human leukocyte antigen typing, and aneuploidy screening

(2021) Dongjia Chen et al.   Systems Biology in Reproductive Medicine

Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening

(2020) Dongjia Chen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Long-read human genome sequencing and its applications

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

Multiple displacement amplification as the first step can increase the diagnostic efficiency of preimplantation genetic testing for monogenic disease for β‐thalassemia

(2019) Yu Fu et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

(2019) Aaron M. Wenger et al.   NATURE BIOTECHNOLOGY

Molecular Basis and Genetic Modifiers of Thalassemia

(2018) Sachith Mettananda et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

(2018) Fritz J. Sedlazeck et al.   NATURE REVIEWS GENETICS

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

(2018) Simon Ardui et al.   NUCLEIC ACIDS RESEARCH

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

(2017) Maria Wilbe et al.   PRENATAL DIAGNOSIS

The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

(2017) Ketong Lai et al.   Scientific Reports

β-Thalassemia

(2016) Raffaella Origa   GENETICS IN MEDICINE

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

(2014) Senthilkumar A. Natesan et al.   GENETICS IN MEDICINE

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD

(2014) Ndeye-Aicha Gueye et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Preimplantation genetic diagnosis for α-and β-double thalassemia

(2011) Xiaoting Shen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS