A5101416407- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Diet, Metabolism, and Disease
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Digestive system and related health
- Cystic Fibrosis Research Advances
- Liver Disease Diagnosis and Treatment
- Folate and B Vitamins Research
- Synthesis and Reactions of Organic Compounds
- Blood disorders and treatments
- Genetic Neurodegenerative Diseases
- Genetics, Bioinformatics, and Biomedical Research
- Congenital Heart Disease Studies
- Ethics in Clinical Research
- Immune Response and Inflammation
- Neurogenetic and Muscular Disorders Research
- Neonatal Respiratory Health Research
- Biomedical Text Mining and Ontologies
- Hearing, Cochlea, Tinnitus, Genetics
- Birth, Development, and Health
- Pancreatitis Pathology and Treatment
- RNA regulation and disease
- Biochemical and Molecular Research
Children's Hospital of Fudan University
2021-2025
Fudan University
2015-2022
Shanghai Electric (China)
2022
State Key Laboratory of Genetic Engineering
2015
Infectious complications (ICs) in acute pancreatitis (AP) are primarily driven by intestinal bacterial translocation, significantly increasing mortality and hospital stays. Despite this, the role of gut microenvironment, particularly its metabolic aspects, AP remains poorly understood. In this study, we investigated a cohort patients with AP, conducted supplemental murine studies, to explore relationship between metabolome development ICs. Metabolomic analysis revealed that disruptions...
Abstract Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU) patients with strong indications Mendelian etiology. However, such applications' diagnostic yield and remain unclear for NICU cohorts minimal phenotype selection. In this study, focused medical exome sequencing was used as a first‐tier, singleton‐focused tool 2303 unrelated sick neonates. Integrated analysis single nucleotide variants (SNVs), small insertions deletions...
Multiple congenital anomalies (MCAs) at birth have emerged as an important cause of neonatal morbidity and mortality. This study aimed to investigate the genetic causes characteristics clinical outcomes in a large cohort neonates with MCAs. Clinical exome sequencing/exome sequencing/genome sequencing were undertaken from December 1, 2016 2019 detect single nucleotide variations (SNVs) copy number (CNVs) simultaneously individuals who met inclusion criteria. A total 588 MCAs enrolled. One...
Objective Fructose-1,6-bisphosphatase deficiency (FBP1D) is a rare inborn error due to mutations in the FBP1 gene. The genetic spectrum of FBP1D China unknown, also nonspecific manifestations confuse disease diagnosis. We systematically estimated prevalence Chinese and explored genotype-phenotype association. Methods collected 101 variants from our cohort public resources, manually curated pathogenicity these variants. Ninety-seven pathogenic or likely were used estimate by three methods: 1)...
Background Congenital heart defects (CHDs) are the most common type of birth defects. The genetic aetiology CHD is complex and incompletely understood. overall distribution causes in patients with from neonatal intensive care units (NICUs) needs to be studied. Methods cases were extracted China Neonatal Genomes Project (2016–2021). Next-generation sequencing results medical records retrospectively evaluated note frequency diagnosis respective patient outcomes. Results In total, 1795...
Congenital anomalies of the kidney and urinary tract (CAKUT) corresponds to a spectrum defects. Several large-cohort studies have used high-throughput sequencing investigate genetic risk CAKUT during antenatal, childhood, adulthood period. However, our knowledge newborns with is limited.This multicenter retrospective cohort study explored in Chinese neonatal cohort. Clinical data whole exome (WES) 330 clinically diagnosed were collected. WES analyzed for putative deleterious single...
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 ( SLC22A5 ) gene is a rare autosomal recessive disease that results defective fatty acid oxidation. PCD can be detected through tandem mass spectrometry (MS/MS), but transplacental transport of free from mothers may cause false negatives or positives during newborn screening (NBS). This study aimed to analyze genetic characteristics and estimate prevalence Chinese population, providing...
analysis-of-consistent-signal-transduction-tool Gene functional enrichment analysis has become a common procedure in high-throughput omics data and plays vital role revealing molecular mechanisms biomedical sciences.Hundreds of different gene methods tools have been developed.In accordance with the problems to be solved principle algorithms, these can approximately classified into four categories, including over-representation analysis, class scoring, pathway topology, network topology.In...
Abstract Background Quantitatively describe the phenotype spectrum of pediatric disorders has remarkable power to assist genetic diagnosis. Here, we developed a matrix which provide this quantitative description genomic-phenotypic association and constructed an automatic system diagnose disorders. Results 20,580 patients with diagnostic conclusions from Children’s Hospital Fudan University during 2015 2019 were reviewed. Based on that, -- cGPS (clinical Gene’s Preferential Synopsis) was...
To the Editor: Genetic diseases contribute to 35% of deaths during first year life and are a significant cause intensive care.[1] A previous study based on China Neonatal Genomes Project investigated genetic causes early infant found that >25% deceased neonates with diagnoses can be cured if diagnosed in time.[2] Therefore, it is crucial target diagnose as possible. According our experience, typical phenotypes, such special facial features or multiple congenital anomalies (MCAs), indicate...
Abstract Background Fructose-1,6-bisphosphatase deficiency (FBP1D) is a rare inborn error due to mutations in the FBP1 gene. The genetic spectrum of FBP1D China unknown, also nonspecific manifestations confuse disease diagnosis. Materials & Methods We collected 101 variants from our cohort and public resources, manually curated pathogenicity these variants. Ninety-seven pathogenic or likely were used estimate Chinese prevalence by three methods: 1) carrier frequency, 2) permutation...
The growth in biomedical data resources has raised potential privacy concerns and risks of genetic information leakage. For instance, exome sequencing aids clinical decisions by comparing through web services, but it requires significant trust between users providers. To alleviate concerns, the most commonly used strategy is to anonymize sensitive data. Unfortunately, studies have shown that anonymization insufficient protect against reidentification attacks. Recently, privacy-preserving...
Background: Rare genetic diseases underlie a significant portion of congenital anomalies and contribute to neonatal intensive care unit (NICU) admissions. A timely diagnosis is important for medical decision making. Emerging evidence demonstrates the clinical utility genomic applications in NICU patients with highly suspect etiology. However, diagnostic yield such remain unclear large scale non-selective cohorts.Methods: Focused exome sequencing was used as first-tier, singleton focused tool...
患儿 男，5小时龄，因“胎龄35+2周早产、全身水肿5 h”于2021年6月入复旦大学附属儿科医院新生儿重症监护病房。患儿出生后表现为全身水肿、窒息，体重和头围均大于P97，存在低血糖、呼吸衰竭、心功能不全、持续性肺动脉高压和隐睾等。住院期间患儿临床症状呈进行性加重，入院第4天应用极速家系全基因组测序流程，用时23.5 h检测到HRAS基因1个新发杂合致病变异：c.35G>A，p.Gly12Asp，确诊Costello综合征，及时调整了治疗决策。.
Under the background of development industrial Internet and digital economy era, artificial intelligence is widely used in all businesses power grid, among which identity authentication personnel substation operation maintenance area a common requirement business scenario grid. This paper proposes " cloud to edge integration" solution based on offline feature extraction + recognition authentication, extracts face features from end side, compares information cloud, realizes through minimized...