ABQ Born, Duke '09, Berkeley '15. Research scientist @my_helix interested in genomes and people. Comments are my own.
San Diego, CA
Joined June 2009
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Is there a connection between #Afib and #Cardiomyopathy in individuals carrying certain genetic variants? Read more about the gene TTN and heart failure in our most recent @my_helix study, published in @GIMJournal sciencedirect.com/science/ar…
I was excited to see genetics and common disease prevention highlighted in the @nytimes, but an important class of human variation was not discussed, so we decided to write a bit about it 👇🏼
#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
Really cool work, @jsdron! Lifelong low LDL (driven by inactivating variants in APOB or PCSK9 genes) leads to substantially lower risk heart disease risk:
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/jam…
1/10🧵
Yepppp
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Amazing news!!!
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
Continue to be happy and humbled to be a small part of this field 👇🏼
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-…
It’s been a pleasure sharing our work this week at #ASHG22!
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
Introducing our new genetics 🧬 method, “Power Window”, lead by the stats genius @ETCirulli , for both discovering and refining *within* gene rare variant associations in populations. The key insight comes from defining association windows by statistical power- read more below 👇🏼
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/10.1101/…
Certain genetic variants in the gene TTN (present in ~1/200 ppl) often underlie progressive heart failure, but genetic testing for this gene has been limited as the risk has been hard to quantify. We discover a path forward for assessing risk in our recent preprint, described👇🏼
@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
Our new work on genetic variation in the gene TTN and heart disease risk, summarized brilliantly by @alexbolze
medrxiv.org/content/10.1101/…
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/10.1101/…
👏 @kellyschiabor @ETCirulli @grzymski
🧵
Kelly Schiabor Barrett retweeted
Looking forward to moderating this journal club next week from @alexbolze @ETCirulli and team!
Combining my two current obsessions - work and Covid vaccines - sorry to all geneticists for bombing your timelines with vax for u5s chatter lately 😂
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/g…
ALT HGG Advances Online Journal Club
Interested in combining clinical data and population genomics? Find @genesareclever at #IS22… we’re hiring @my_helix !!
So excited about @AMIAinformatics #IS22, my first in-person conference since the pandemic started. Chat me up if you're here! I'm hiring!
Kelly Schiabor Barrett retweeted
Curious about Delta-Omicron recombinants?
Our study 👏 @shishiluo @my_helix: medrxiv.org/content/10.1101/…
Co-circultation of both variants
20 samples with co-infections
Evidence of a few recombinations in co-infections
& 2 infections with 100% recombinant
Details in 🧵
🧵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
Overall, our analysis supports the amazing work of @TheGenomeLab and @lea_starita with clinical evidence in one of the most likely use cases: population genomics risk screening and demonstrates the power of functional genomics for advancing variant interpretation.