Just published in the Journal of Molecular Diagnostics!
This new paper from the BLOODPAC #bTMB Working Group offers a framework for the #analyticalvalidation of bTMB tests, highlighting key technical and biological challenges.

👉www.sciencedirect.com/science/article/pii/S152...

Screenshot of Figure 1: Sensitivity and specificity of copy-number variant (CNV) detection are driven by FF and CNV length. A. Confidence for CNV calls detected in samples simulated to be CNV negative is inflated for shorter CNVs. Red points represent the 99th percentile confidence value in a window of length. Red line shows the logarithmic decay fit of the red points. B. The length of CNVs detected in samples simulated to be CNV negative is longer when FF is low. Red points represent the 99th percentile length of false-positive calls in each FF bin. Red line shows the exponential decay fit of the red points. C. Simulated sensitivity of CNV detection varies dramatically across CNV lengths and the typical range of FFs observed with FFA.

Sometimes more is better: #Fetal fraction amplification improves the sensitivity and resolution of #CNV detection in prenatal #cfDNA screening bit.ly/3EiS9dJ #analyticalvalidation