🧬🧠 | Genetic Counselor | Neurogenetics & brain malformations | 👨🏻🎓@EmoryGCTP & @csuf alum | 🗣Opinions are my own | 🤴🏻he/him/他 | 🏳️🌈
14q32.13
Joined April 2019
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Genetic counselors be like "I know a spot" and then have to Sanger it to confirm that its real.
Reaching out to my genetics network and those with expertise in gene expression. These are the graphs of bulk tissue gene expression but idk if the linear (1st pic) or the logarithmic graph (2nd pic) would be better to show. How would these graphs be interpreted?
Does ACGC consider geographic location of programs applying for accreditation? Does having 5 programs all within 2 hours of each other actually serve our profession and students’ needs?
BrySeq, MMSc, CGC retweeted
Dr Jerry Vockley taking us back to the basics. The metabolic wheel of fortune. @SIMDtweets @TheACMG
BrySeq, MMSc, CGC retweeted
A potential role for centromere dysfunction in Down syndrome! We generated the first complete sequence of all three chr21 centromeres in an individual with Down syndrome & found that one centromere is ~11-fold smaller than usual and another has an atypical epigenetic landscape!
Happy to share our work on Down syndrome! We sequenced and assembled all chr21 centromeres of a parent-proband trio with Trisomy 21 (MMIE) revealing centromere asymmetry and differences in kinetochore attachment @glennis_logsdon @EichlerLab @EichlerEE shorturl.at/fnRV0
BrySeq, MMSc, CGC retweeted
1/10 [My first Twitter/X post] Our preprint about the joint statistical analysis of the Undiagnosed Diseases Network patients is finally out: biorxiv.org/content/10.1101/…
BrySeq, MMSc, CGC retweeted
Neutropenia is common consult for heme/onc. We see neutropenic patients in clinic all the time. Here is a basic framework for neutropenia...
#MedTwitter #MedX
BrySeq, MMSc, CGC retweeted
An NIH advisory group announced today that they're recommending the agency boost its minimum #postdoc salary to $70,000, up from the current $56,484. Many postdocs feel "underpaid and overworked," a co-chair said.
My latest for @ScienceInsider:
science.org/content/article/…
BrySeq, MMSc, CGC retweeted
A thread about our depraved healthcare system, and a plea.
In 2021, my friend Carole was diagnosed with terminal stage four cancer. A single parent with two kids, she had just turned 43. In 2017, she had watched her brother Chris die of the same cancer. He too was in his 40s.
BrySeq, MMSc, CGC retweeted
How did I just find out that Nature publishes weekly sci-fi stories?!
is this news to anyone else or am I just way behind
BrySeq, MMSc, CGC retweeted
I know that the @broadinstitute got so much praise for #gnomAD 4.0, but can we also shout out this BEAUTIFUL explanation on how they defined genetic ancestry??? Bc the girls LOVE to tussle, they went into DETAIL and this table was born! #genechat I STAN. gnomad.broadinstitute.org/ne…
BrySeq, MMSc, CGC retweeted
A few excellent recent papers on important and often misunderstood population parameters in genetics. A short 🧵:
BrySeq, MMSc, CGC retweeted
an absolute embarrassment. GCs have a history of being one of the most racist fields in healthcare and here we are perpetuating it with decisions like these. what a disingenuous group of people who think allyship is a trend that you can hop on as you please. #gcchat #genechat
BrySeq, MMSc, CGC retweeted
New paper on the "Phenotypes of undiagnosed adults with actionable OTC and GLA variants," which examined the medical history of patients in the MGB and Penn biobanks with variants associated with OTC deficiency and Fabry disease, is out now.
Read here: bit.ly/3DY2dW9
ALT Research paper titled Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
💫New @HGGAdvances
📰Phenotypes of undiagnosed adults with actionable OTC and GLA variants
🧑🤝🧑@nbgmd @RegeneronDNA & colleagues
👉rb.gy/uh3ou
BrySeq, MMSc, CGC retweeted
Attending: What’s the drip?
Me: These are my midnight blue Figs scrubs that I’m rocking with sky blue AllBird tree pipers and a light plume gray Patagonia vest!
Attending: No I mean what is running through that patient’s new IV?
Me: Oh that’s heparin.
Attending:
Me: Sorry.
BrySeq, MMSc, CGC retweeted
🚨Happy #Hallogene22 🚨 and welcome to Bayeswatch! Our team is the elite of the elite. We protect the bay at all costs. 🦈
💥LIKE💥 this post so we can keep the coveted @HallogeneT in Columbus! #genechat @ASGCGP
@OhioStateMed @OhioState
ALT Scene from the beach: many lifeguards (in red) run from a person in a shark costume holding a whiteboard with a Bayes problem, while onlookers sit on the beach in awe.