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

[1]  Yan Xu,et al.  Successful four-factor preimplantation genetic testing: α- and β-thalassemia, human leukocyte antigen typing, and aneuploidy screening , 2021, Systems biology in reproductive medicine.

[2]  Evan E. Eichler,et al.  Long-read human genome sequencing and its applications , 2020, Nature Reviews Genetics.

[3]  Yan Xu,et al.  Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening , 2020, Journal of Assisted Reproduction and Genetics.

[4]  M. Ritchie,et al.  Opportunities and challenges in long-read sequencing data analysis , 2020, Genome Biology.

[5]  Canquan Zhou,et al.  Multiple displacement amplification as the first step can increase the diagnostic efficiency of preimplantation genetic testing for monogenic disease for β‐thalassemia , 2019, The journal of obstetrics and gynaecology research.

[6]  Sergey Koren,et al.  Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome , 2019, Nature Biotechnology.

[7]  D. Higgs,et al.  Molecular Basis and Genetic Modifiers of Thalassemia. , 2018, Hematology/oncology clinics of North America.

[8]  Fritz J Sedlazeck,et al.  Piercing the dark matter: bioinformatics of long-range sequencing and mapping , 2018, Nature Reviews Genetics.

[9]  A. Ameur,et al.  Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics , 2018, Nucleic acids research.

[10]  A. Ameur,et al.  A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders , 2017, Prenatal diagnosis.

[11]  Yunyan He,et al.  The prevalence of thalassemia in mainland China: evidence from epidemiological surveys , 2017, Scientific Reports.

[12]  Deanne M. Taylor,et al.  Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD , 2014, Journal of Assisted Reproduction and Genetics.

[13]  Alex J. Bladon,et al.  Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro , 2014, Genetics in Medicine.

[14]  Canquan Zhou,et al.  [Combination of multiple displacement amplification with short tandem repeat polymorphismin preimplantation genetic diagnosis]. , 2013, Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences.

[15]  Y. Aydinok Thalassemia , 2012, Hematology.

[16]  Tao Li,et al.  Preimplantation genetic diagnosis for α-and β-double thalassemia , 2011, Journal of Assisted Reproduction and Genetics.

[17]  Mark B Gerstein,et al.  Assessment of whole genome amplification-induced bias through high-throughput, massively parallel whole genome sequencing , 2006, BMC Genomics.

[18]  The eMERGE Clinical Annotation Working Group A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001 .