BrySeq, MMSc, CGC

Genetic counselors be like "I know a spot" and then have to Sanger it to confirm that its real.

And when do you use linear vs log?

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?

@SGreenbergGC Fieldwork was really what was on my mind. Don’t get me wrong, I live in a big metro area but genetic counselors are still a finite resource and some of the local programs have 10-20 students. I think the bandwidth for cancer/prenatal is okay but I feel like peds exp would suffer

@BrySeq If a new school meeting standards results in an established program folding, that’s not for them to decide. Personally, I do think we need a happy medium, particularly bc it’s hard to know how fieldwork distribution will actually play out versus what letters of commitment say 2/2

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?

@DevinShuman Ooo that’s a good idea I’ll look into it

@bbheinz GroupMe isn’t terrible but whatsapp is so much better

is groupme terrible lol

what's the best residency group chat app? i'm mainly familiar with whatsapp but am excited to be convinced there's something better

Dr Jerry Vockley taking us back to the basics. The metabolic wheel of fortune. @SIMDtweets @TheACMG

@MBurt34 Congrats!

the dream goes on my friends

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!

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/10.110…

For those of us interested in genes and kpop

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

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/articl…

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.

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

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/news/2023-11-g…

A few excellent recent papers on important and often misunderstood population parameters in genetics. A short 🧵:

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

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