Kelly Schiabor Barrett
436 posts
@kellyschiabor
ABQ Born, Duke '09, Berkeley '15. Research scientist @my_helix interested in genomes and people. Comments are my own.
#OnTheBlog: While a recent @nytimes article highlighted the use of Polygenic Risk Scores for heart disease prevention, @cassiehajek, Helix's Medical Director, shares how testing for rare variants before or alongside PRS leads to enhanced preventive care: bit.ly/44borPw
Those with DNA mutations inactivating APOB or PCSK9 genes have ⬇️ LDL-C and protection from🫀 disease. We identify 801 carriers and observe stable LDL-C reductions of ~47 mg/dL, corresponding to a 49% ⬇️🫀disease risk. Details in @JamaCardio! jamanetwork.com/journals/jamac… 1/10🧵
Proud to announce we are partnering with @WellSpan on a #populationgenomics initiative aimed at empowering physicians to deliver #precisionhealth care for Pennsylvanians through one of the largest #populationhealth programs in the state. Learn more here: bit.ly/3uwByel
A big one. I've been saying for a decade: "This is biology's century." And we're still not ready. My editors asked me to explain what that means. It was harder than I expected. I hope you like reading it. statnews.com/2022/11/03/why…
Our final #ASHG22 poster by @kellyschiabor and @renownhealth shows how a specific variant type of TTN can serve as a disease marker for elevated risk of cardiomyopathy, which could be evaluated in patients with atrial fib or other heart conditions. bit.ly/3WfmVIQ
Thrilled to present @my_helix paper ID'ing the rare variants/regions w/in genes responsible for the statistical associations seen in gene-based collapsing analyses. Key innovation is to slide window not by # bases or variants, but by statistical power. 1/ medrxiv.org/content/10.110…
@ETCirulli and @kellyschiabor have provided evidence for the first population-level screening method with #clinicalutility for #cardiomyopathies. Read more about our "power window" #populationgenomics technique in this @GenomeWeb article: bit.ly/3ImmOoB
1/ If you have a truncating variant in TTN & you were diagnosed with atrial fibrillation (Afib), you are at high risk of cardiomyopathy Clear & rigorous study based on @uk_biobank & @HealthyNV medrxiv.org/content/10.110… 👏 @kellyschiabor @ETCirulli @grzymski 🧵
The June Journal Club is next Wednesday at noon Eastern 📝 Alexandre Bolze, PhD, will discuss his research identifying genetic factors that help explain differences in reactions following #COVID19 vaccination with the Pfizer-BioNTech BNT162b2 vaccine: learning.ashg.org/products/genet…
So excited about @AMIAinformatics #IS22, my first in-person conference since the pandemic started. Chat me up if you're here! I'm hiring!
🧵on our #OA article at @HGGAdvances “Clinical Validation of genomic functional screen data: analysis of observed #BRCA1 variants in an unselected population cohort” in collab with the incredible @MyCode and co-authors @AdamBuchanan76, @hwillardX, @masnick bit.ly/3MKZAKo
