Olusola Olowoselu, Kehinde S Okunade, Olufemi A Oyedeji, Nosimot O Davies, Obiefuna I Ajie, Ademola Adewoyin, Gaurav Kharya
Long-Term Ovarian Function Assessment After Haematopoietic Stem Cell Transplantation in Female Sickle Cell Anaemia Survivors
Cureus
nextgeneration sequencing ngs allows rapid analysis multiple genes detection clinically actionable variants study reports analytical validation targeted pan cancer ngs panel canseqtmkids molecular profiling childhood malignancies analytical validation included dna rna extracted deidentified clinical specimens including formalin fixed paraffin embedded ffpe tissue bone marrow whole blood well commercially available reference materials dna component panel evaluates 130 genes detection single nucleotide variants snvs insertion deletions indels 91 genes fusion variants associated childhood malignancies conditions optimized use low 20 neoplastic content 5 ng nucleic acid input evaluation data determined greater 99 accuracy sensitivity repeatability reproducibility limit detection established 5 allele fraction snvs indels 5 copies gene amplifications 1100 reads gene fusions assay efficiency improved automation library preparation conclusion canseqtmkids allows comprehensive molecular profiling childhood malignancies different specimen sources high quality fast turnaround time