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Article

Design and analytical validation of Nexthyro 2.0, a custom next-generation sequencing panel integrating DNA mutation profiling and RNA fusion detection for routine thyroid pathology specimens.

Research record from Virchows Arch, 2026-08-31. PMID 42671580.

Article

Detection and characterization of PRRSV-2 viruses with mutations in binding sites of common diagnostic real-time RT-PCR primer and probe sequences.

Research record from J Virol Methods, 2026-10-21. PMID 42906759.

Article

Diagnostic accuracy of the droplet digital PCR POLE mutation test in endometrial cancer: comparison with Sanger sequencing and NGS.

Research record from J Gynecol Oncol, 2026-03-18. PMID 41906781.

Article

Diagnostic performance of droplet digital PCR for KRAS mutation analysis in pancreatic cancer cytology specimens.

Research record from J Gastroenterol, 2026-05-23. PMID 42177316.

Glossary Term

DNA Damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis.

Pcr Terms

Indicators

Factor V Leiden

An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.

Indicators

FGFR2 Gene

This gene plays a role in mitogenesis and differentiation and mutations in the gene are associated with craniosynostotic syndromes and bone malformations.

Indicators

FGFR3 Gene

This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia.

Glossary Term

Frameshift Mutation

A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.

Pcr Terms

Glossary Term

Germline Variation

Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.

Pcr Terms

Article

HIV-1 APOBEC-context Mutations Detected by Next-Generation Sequencing in Plasma: Implications for Drug Resistance Interpretation.

Research record from J Infect Dis, 2026-09-01. PMID 42244370.

Article

Identification of Somatic and Germline Mutations Influencing Treatment Outcomes and Disease Susceptibility in Tunisian Triple-Negative Breast Cancer Using Next-Generation Sequencing.

Research record from Br J Biomed Sci, 2026-04-22. PMID 42099507.

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