First report of inherited protein S deficiency caused by paternal PROS1 mosaicism

Article Biochemistry & Molecular Biology

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders

Bertrand Chesneau et al.

Summary: The study found that parental mosaicism is not uncommon in Marfan syndrome, with higher than expected number of apparently de novo events and identified cases of somatogonadal mosaicism in parents. High Resolution Melting Analysis and NGS were more efficient at detecting and evaluating mosaicism compared to direct Sanger sequencing.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Add to Collection

Article Multidisciplinary Sciences

High sensitivity sanger sequencing detection of BRAF mutations in metastatic melanoma FFPE tissue specimens

Lauren Y. Cheng et al.

Summary: The study demonstrates that the NuProbe VarTrace BRAF sequencing technology can detect BRAF V600 mutations down to 0.20% VAF from FFPE lymph node tissue samples, with high concordance among various methods for samples with VAF>=1% BRAF mutations, but with possible false negatives in IHC. The BDA Sanger method is effective for rapid detection and quantitation of multiple low VAF BRAF mutations.

SCIENTIFIC REPORTS (2021)

Add to Collection

Article Biochemical Research Methods

Digital PCR detection of EGFR somatic mutations in non-small-cell lung cancer formalin fixed paraffin embedded samples

Tamyres Mingorance Carvalho et al.

Summary: This study optimized dPCR for detection of EGFR mutations in NSCLC with higher sensitivity and specificity compared to castPCR. The results demonstrated the superior performance of dPCR in detecting EGFR mutations.

MOLECULAR AND CELLULAR PROBES (2021)

Add to Collection

Article Genetics & Heredity