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Showing 1 - 12 of 16 for “Variant Allele Frequency”

All Results (16)Article (16)

Article

A next-generation sequencing-based pharmacogenetic study of ABCB1, ABCC1, and ABCC2 variants associated with antiseizure medication response in Turkish epilepsy patients.

Research record from Epileptic Disord, 2026-09-05. PMID 42700104.

Article

A novel multiplex digital PCR assay for simultaneous quantification of androgen receptor amplification, mutations, and splice variants in cell-free nucleic acids from metastatic castration-resistant prostate cancer.

Research record from J Liq Biopsy, 2026-10-06. PMID 42893057.

Article

Analysis of CCR2 gene variants in patients with sarcoidosis using targeted next-generation sequencing: a case-control study.

Research record from Mol Biol Rep, 2026-10-20. PMID 42900239.

Article

Flow cytometry-based detection of functional CCR5 variants: A scalable screening approach for HIV-resistant cord blood stem cells.

Research record from Transfusion, 2026-04-08. PMID 41952359.

Article

Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still's disease using next-generation sequencing.

Research record from Immunol Res, 2026-10-01. PMID 42821198.

Article

Multiplex RT-PCR-Based Sequencing Assay to Detect Kidney Cancer-Specific Splice Variants in Tumor Tissues and Plasma Cell-Free RNAs.

Research record from Mol Diagn Ther, 2026-07-06. PMID 42410176.

Article

Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.

Research record from Nat Genet, 2026-07-24. PMID 42498778.

Article

Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders.

Research record from Genes (Basel), 2026-05-31. PMID 42353803.

Article

Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients.

Research record from BMC Cancer, 2026-07-17. PMID 42464142.

Article

Pathogenic Variants and Clinical Outcomes in Korean Dilated Cardiomyopathy Patients: Insights From Next-Generation Sequencing.

Research record from JACC Asia, 2026-03-16. PMID 41837919.

Article

Spectrum of actionable genetic variants in acute myeloid leukaemia patients from Pakistan: a study based on next-generation sequencing.

Research record from Ecancermedicalscience, 2026-05-27. PMID 42428814.

Article

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

Research record from J Neurol, 2026-07-20. PMID 42474733.

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