Jun 29, 2022 | References
“With the generation of genomics data continuously becoming easier and cheaper, the interpretation of the large amounts of data and the identification of the relevant disease-causing environmental factors will remain the biggest challenges of the years to come.”
Jun 29, 2022 | References
“A common error is to assume that the sensitivity and specificity of a test equates to diagnostic accuracy. The whole point of a diagnostic test is to use it to make a diagnosis, so we need to know the probability that the test will give the correct diagnosis. The sensitivity and specificity do not give us this information. Instead we must approach the data from the direction of the test results, using predictive values.”
Jun 29, 2022 | References
“Our orthogonal approach identified false-negative (FN) and false-positive (FP) variants with high confidence and revealed substantial variability among the ctDNA assays, with a range of sensitivity (38% to 89%) and positive predictive value (36% to 80%). “
Jun 29, 2022 | References
“In this cross-sectional study, most interpretations of genetic variants associated with epilepsy were concordant among laboratories, but more than half of the variants with conflicting interpretations occurred in genes that have therapeutic implications.”
Jun 29, 2022 | References
“Among all participants, 56 of 518 (11%) had a variant with conflicting interpretations ranging from pathogenic/likely pathogenic to VUS, a discrepancy that may alter medical management.”
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