Liz Cirulli
1.6K posts
@ETCirulli
Human geneticist interested in rare variants and unusual phenotypes. She/hers.
New 📰 🧵 Those with Familial Hypercholesterolemia (FH) have very high LDL-Cholesterol levels since childhood. We can identify all of them via population genomic screening. Key Q: once identified, does it improve outcomes? medrxiv.org/content/10.110… 👏 Matt Levy @my_helix
XBB.1.5 mRNA COVID-19 Vaccination and Inpatient or Emergency Department Visits Among Adults Infected with SARS-CoV-2 JN.1 and XBB-Lineage Variants medrxiv.org/cgi/content/sh… #medRxiv
#OnTheBlog: We summarize our newest JAMA Oncology publication that demonstrates how genetic testing could actually help identify women that may be at LOWER risk for breast cancer, and could potentially defer their mammogram screenings by 5-10 years. bit.ly/3voC81u
#InTheNews: On a recent study looking at prescribing gaps among high-risk adults for Covid, co-author Matt Levy, Ph.D. hypothesized: antiviral “treatment may not be prioritized due to overall lower numbers of hospitalizations and deaths.” (via @Forbes) bit.ly/3RWxNtV
Join the Helix team at #ASHG2023 live on Nov 4th at 11:45am ET as we present novel research using #Exome sequencing data to identify and characterize polycystic kidney disease (PKD) in patients with hypertension. Learn more here! bit.ly/40qnSR2
Genetic risk factors of schizophrenia and their effect sizes--common variants, rare variants, CNVs and polygenic risk. I love the addition of the effect size of the top 1% of polygenic risk to the plot. It highlights the importance of cumulative risk of common variants and reminds us that polygenic risk can be equivalent to monogenic risk factors. From a recent review article by the experts in schizophrenia genetics (Owen, O'Donovan et al. Mol Psych) nature.com/articles/s4138…
Thrilled to see our paper on rare variant associations with plasma protein levels in the @uk_biobank published in @nature today nature.com/articles/s4158… Summary statistics are publicly available at azphewas.com and an interactive portal astrazeneca-cgr-publications.github.io/pqtl-browser/i…
Determining the phase of two variants is a key part of recessive diagnoses, but is challenging to do with short-read sequencing data and often requires parental data. We used gnomAD to aid in phasing, and explored compound heterozygosity in these data 1/ biorxiv.org/content/10.110…
