Natalie D.
@nataliedeuitch.bsky.social
Research GC counseling on fevers and platelets 🧬🩸
Reposted by Natalie D.
If you or someone you know or provide care for has RUNX1 Familial Platelet Disorder, please reach out to the NHGRI RUNX1 Natural History Study. #HemeSky #RUNX1 #FPD
www.genome.gov/Current-NHGR...
www.genome.gov/Current-NHGR...
NIH RUNX1-FPD Clinical Research Study
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associ...
www.genome.gov
December 10, 2024 at 10:30 PM
If you or someone you know or provide care for has RUNX1 Familial Platelet Disorder, please reach out to the NHGRI RUNX1 Natural History Study. #HemeSky #RUNX1 #FPD
www.genome.gov/Current-NHGR...
www.genome.gov/Current-NHGR...
Reposted by Natalie D.
Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing.
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Purpose: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty,…
buff.ly
November 14, 2024 at 1:37 PM
Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing.