3 articles tagged with #diagnostics.
A practical guide to genomic foundation models for diagnostic DNA and RNA testing. Eight clinical tasks, which ones a foundation model has been tested on, what to use where it has not, which model to pick when you do want one, and what it costs to run.
Seven published comparisons of DNA sequencing workflows for pathogen identification, from mock communities to patient specimens. None is an independent clinical validation of competing workflows.
Short-read genome callers recover most deletions above 10 kb. Small deletions, duplications and exome data are where they fail, and read depth alone misses most 1 to 5 kb deletions. There is no reliable evidence that a machine-learning caller beats the read-depth baseline on the same data.
