A5111047243- Prenatal Screening and Diagnostics
- Nanopore and Nanochannel Transport Studies
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Advanced biosensing and bioanalysis techniques
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Muscle Physiology and Disorders
- Ubiquitin and proteasome pathways
- Renal and related cancers
- RNA Interference and Gene Delivery
- Genetic and Kidney Cyst Diseases
- Genomics and Phylogenetic Studies
- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- DNA and Biological Computing
- RNA Research and Splicing
- SARS-CoV-2 detection and testing
- Electrostatics and Colloid Interactions
- Ion-surface interactions and analysis
- Neurogenetic and Muscular Disorders Research
- RNA and protein synthesis mechanisms
- Electrochemical Analysis and Applications
- Environmental DNA in Biodiversity Studies
Sinotech Genomics (China)
2024
Central South University
2023
Genomics (United Kingdom)
2023
Peking University
2019-2021
Abstract Background Dystrophinopathies are the most common X-linked inherited muscle diseases, and disease-causing gene is DMD . Exonic duplications a type of pathogenic variants in gene, however, 5’ end exonic containing exon 1 less common. When assessing pathogenicity consideration must be given to their impact on reading frame. Traditional molecular methods, such as multiplex ligation-dependent probe amplification (MLPA) next-generation sequencing (NGS), commonly used clinics. However,...
Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects. Preimplantation genetic testing (PGT) widely used to select euploid embryos for BRT carriers increase chance a healthy live birth. Several strategies can be distinguish carrier from those with normal karyotype; however, these techniques are time-consuming difficult implement in clinical laboratories. In this study, nanopore sequencing...
Abstract Genetic diseases encompass a spectrum of disorders resulting from DNA variations. Preimplantation genetic testing (PGT) is critical strategy for preventing recurrent miscarriage, foetal malformations, and the birth children affected by chromosomal abnormalities monogenic disorders. Traditional PGT techniques necessitate comprehensive pedigree data haplotype linkage analysis, whereas employing third-generation sequencing (TGS) has distinct advantages, particularly in cases incomplete...
Structural rearrangements in highly repetitive heterochromatin regions can result miscarriage or foetal malformations; however, detecting and preventing the transmission of these has been challenging. Recently, completion sequencing complete human genome (T2T-CHM13) made it possible to accurately characterise structural regions. We developed a method based on T2T-CHM13 nanopore detect block sequences.
Abstract The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary that causes late-onset renal cyst development and end-stage disease. Preimplantation genetic testing for monogenic (PGT-M) has emerged as an effective strategy to prevent pathogenic mutation transmission rely on SNP linkage analysis between pedigree members. Yet, it remains challenging establish reliable PGT-M methods ADPKD cases or other diseases with de novo mutations without a family...
We propose synthetic DNA/RNA transcription circuits based on specific aptamer recognition. By mimicking factor regulation, combined with enzyme/DNA binding, multiple biomolecules including DNA, RNA, polymerase, restriction enzymes and methylase were used as regulators. In addition, multi-level cascading networks methylation-switch also established. This regulation strategy has the potential to expand toolkit of in vitro biology.
Abstract Background : While preimplantation genetic testing (PGT) carrier screening has proven efficacious in improving assisted reproduction outcomes for individuals with balanced translocations and chromosome inversions, the accurate identification of embryos carrying ring chromosomes remains a substantial challenge, undermining efficacy PGT. This study aims to address this gap by pioneering an advanced proband-independent haplotyping technology based on Linked-Read Sequencing designed...
Abstract The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary that causes late-onset renal cyst development and end-stage disease. Preimplantation genetic testing for monogenic (PGT-M) has emerged as an effective strategy to prevent pathogenic mutation transmission rely on SNP linkage analysis between pedigree members. Yet, it remains challenging establish reliable PGT-M methods ADPKD cases or other diseases with de novo mutations without a family...
Abstract Background Structural rearrangements in highly repetitive heterochromatin regions can result miscarriage or fetal malformations, but detecting and blocking these has been challenging. Recently, the completion of a complete human genome (T2T-CHM13) made it possible to accurately characterize structural regions. Results We developed methodology based on T2T-CHM13 nanopore sequencing detect block heterochromatin. To validate this approach, we used families with inversions reciprocal...
Abstract Background Most monogenic diseases resulting from pathogenic variants lack effective treatments. Genetic counseling and preimplantation genetic testing for monogenic/ single-gene (PGT-M) are significant methods to block the inheritance of variants. However, conventional PGT-M, based on next-generation sequencing (NGS), has limitations analyze haplotype linkage when dealing with special variants, particularly under conditions de novo variant or incomplete pedigree information....
Abstract Background Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects approximately 1 in 5,000 newborn males. Most patients die of cardiac failure and/or respiratory insufficiency at 20–40 years age. Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to help couples with DMD mutations produce unaffected offspring. However, the current PGT-M based on next-generation sequencing (NGS) cannot provide effective PGT technique...
Abstract Backgroud Dystrophinopathies are the most common X-linked inherited muscle diseases, and disease-causing gene is DMD . Exonic duplications type of pathogenic variants in gene, however, 5’ end exonic containing exon 1 less common. When assessing pathogenicity consideration must be given to their impact on reading frame. Traditional molecular methods, such as multiplex ligation-dependent probe amplification (MLPA) next generation sequencing (NGS), commonly used clinic. However, they...