Grandomics (China)

Recent papers from Grandomics (China)

1. Concatenated mitochondrial segments in human genetic disorders: a case studyHuman Genomics · 2026
2. Pangenome and resequencing analyses reveal flowering evolution and genetic control in CerasusNature Communications · 2026
3. Long-read sequencing identifies complex structural variants in DMD patientsBMC Medical Genomics · 2026
4. Bayesian Integrative Detection of Structural Variations With False Discovery Rate ControlBiometrical Journal · 2026
5. Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancerFEBS Open Bio · 2026
6. A POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammalsMolecular Biology and Evolution · 2026
7. BVSim: A benchmarking variation simulator mimicking human variation spectrumGigaScience · 2025
8. Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mappingBMC Medical Genomics · 2025
9. Direct Inference of Haplotypes from Sequencing DataBioinformatics Advances · 2025
10. Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremorBrain · 2025
11. From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencingComputational and Structural Biotechnology Journal · 2025
12. Concurrent Detection of Protein and miRNA at the Single Extracellular Vesicle Level Using a Digital Dual CRISPR-Cas AssayACS Nano · 2024
13. Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHDFrontiers in Genetics · 2024
14. Arginine methylation coordinates with phosphorylation to regulate NADP + synthesis2024
15. Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two casesBMC Medical Genomics · 2024
16. Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complexFrontiers in Cell and Developmental Biology · 2024
17. HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNABMC Genomics · 2024
18. Genome-wide identification analysis in wild-type Solanum pinnatisectum reveals some genes defending against Phytophthora infestansFrontiers in Genetics · 2024
19. NextDenovo: an efficient error correction and accurate assembly tool for noisy long readsGenome biology · 2024
20. Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adultsOrphanet Journal of Rare Diseases · 2024