Latest Research in Hepatobiliary Variant Interpretation

Top Research Topics in Hepatobiliary Variant Interpretation

• Genomics and Rare Diseases — 20 papers
• Liver Disease Diagnosis and Treatment — 8 papers
• Genetic Neurodegenerative Diseases — 7 papers
• Genetic factors in colorectal cancer — 3 papers
• Metabolomics and Mass Spectrometry Studies — 3 papers
• Epilepsy research and treatment — 2 papers
• Cerebrospinal fluid and hydrocephalus — 2 papers
• Metabolism and Genetic Disorders — 2 papers
• Drug-Induced Hepatotoxicity and Protection — 2 papers
• Genomic variations and chromosomal abnormalities — 2 papers

Highest-Cited Papers

1. dicast: a machine learning method for accurate structural variant detection from short-read sequencing data (1 citations)
2. Neurotransmitters as regulators of autoimmunity: mechanisms and translational targeting (1 citations)
3. Genomize-SEQ: an NGS data analysis platform for genomic variant classification and prioritization (2 citations)
4. Long-chain fatty acid metabolic imbalance in MASLD: lipotoxicity, lipidomic signatures, and therapeutic implications
5. Pathogenic NLGN4X variants reveal dual roles in synaptic connectivity and cortical development
6. Alpha 2-HS glycoprotein increases glucagon synthesis and secretion in cells, mice, and humans
7. Divergent effects of semaglutide and CRV431 Co-therapy on liver fibrosis and HCC in MASLD mouse model
8. Sex-Specific Mechanisms of Perivascular Adipose Tissue (PVAT) Dysfunction in Prediabetes and Diabetes: From Metabolic Crosstalk to Vascular Outcomes
9. Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia
10. Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1
11. Friedreich Ataxia: From Genetics to Mechanism to Clinical Features
12. GBA1 in Parkinson’s disease: past, present and future
13. SV-EViz: a user-friendly web platform for structural variant evaluation and visualization
14. Chronic Hypertension and the Brain’s Waste Drainage System
15. Prioritizing MSH6 Missense Variants of Uncertain Significance Using Integrated Computational and Population Evidence
16. Development and validation of a 10-metabolite prognostic model for 4-year all-cause mortality in heart failure with preserved ejection fraction in the Chinese Han population
17. Prioritizing MSH6 Missense Variants of Uncertain Significance Using Integrated Computational and Population Evidence
18. Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis
19. DNAH14 knockout mice as a model of chronic hydrocephalus: cilia and brain-related pathology
20. The Role of the OSM/OSMRβ Axis in Chronic Liver Disease Progression and Hepatocellular Carcinoma Development: A Focus on MASLD/MASH

Sub-Regions

• Genomics and Rare Diseases — 20 papers
• Genetic factors in colorectal cancer — 19 papers
• Genetic Neurodegenerative Diseases — 19 papers
• Amyotrophic Lateral Sclerosis Research — 15 papers
• Liver Disease Diagnosis and Treatment — 10 papers
• Cardiovascular Function and Risk Factors — 6 papers