Melissa Haendel
@ontowonka
At the intersection of biology and everything else. #AttributionForAll. #UnitedAgainstHate #raredisease #FactsMatter, also at @[email protected]
ID: 777135943
24-08-2012 01:23:24
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Benchmarking #variantprioritzation tools for #raredisease diagnostics is critical! See Monarch Initiative new eval framework at: pubmed.ncbi.nlm.nih.gov/38915571/ and rebuttal of recent tool at: zenodo.org/records/127548…