Bret Bostwick

Clinical Geneticist, Educator, #Raredisease, Baylor College of Medicine, Undiagnosed Diseases, thoughts expressed are my own

[John Maraganore 🇺🇸🇬🇷🇺🇦 @JMaraganore]

My take on the biotech industry from a discussion with ⁦@AGatlin_IBD⁩ at ⁦@IBDinvestors⁩.

“The biotech industry continues to deliver unmatched innovation for patients. The industry, frankly, is crushing it on the innovation side." https://t.co/C6BBc3GVjy

[Bret Bostwick @bretbostwick]

Another great paper out of the UDN. https://t.co/9Sv7Gg75aB

[Bret Bostwick @bretbostwick]

Awesome resource! https://t.co/vAjyqpod8B

[Eric Topol @EricTopol]

How to better understand the utter complexities of our immune system by deep mining of the biomedical literature corpus https://t.co/o5zecahpGD @NatureBiotech By @TechnionLive's @KsenyaKveler @shenorr and colleagues
Your morning's ImmuneExpresso :-)

[Bret Bostwick @bretbostwick]

@UDNconnect DOCK8 CNV? Or PGM3, Tyk2, or ZNF341?

[Bret Bostwick @bretbostwick]

"It's basically spell-checking your genes..." Great job Lauren! https://t.co/7Kb52LvCD2

[Bret Bostwick @bretbostwick]

Interesting idea that I hope gains traction... https://t.co/N00NvVFc5f

[Bret Bostwick @bretbostwick]

@brittkmiller Get a referral to a medical geneticist or a genetic counselor to discuss further.

[Bret Bostwick @bretbostwick]

Liked: "Doctors should be making diagnoses, not labs.” https://t.co/wTK7YEDIDl

[Bret Bostwick @bretbostwick]

Important commentary on genomic terminology. I agree that we need to communicate as precisely as we sequence. https://t.co/BQxetbQIEt

[Bret Bostwick @bretbostwick]

Great collaborative work here! https://t.co/PbC664vINY

[Bret Bostwick @bretbostwick]

@jwbelmon Congrats!

[Genetics in Medicine @GIMJournal]

Does genome sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness @ZornitzaS @MelbGenomics https://t.co/Yx4aaSmEAm

[Bret Bostwick @bretbostwick]

Go Australia! https://t.co/BtVCtGxtjW

[Bret Bostwick @bretbostwick]

I applaud the visionary approach! https://t.co/cIriXCFJWK

[Lindsay Deneault @LindsayDeneault]

.@GeisingerHealth doubling down on #genomics and offering exome sequences for all patients, just like a #mammography & #colonoscopy, with 90% of patients getting genetic counseling from a #chatbot. #HLTH2018 @HLTHEVENT

[Bret Bostwick @bretbostwick]

All of us! Sign up now and join the cause! https://t.co/bt9p6IfLkd

[Bret Bostwick @bretbostwick]

A reminder why it is critical to explain a VUS to patients... https://t.co/WC6loc4hGo

[Bret Bostwick @bretbostwick]

https://t.co/9yGkHQ41Hi

[Bret Bostwick @bretbostwick]

40% of variants detected by DTC platforms were false positives, largely due to incorrect variant bioinformatics. https://t.co/m9HFi3c8L0

[Bret Bostwick @bretbostwick]

PyTorch 1.0 now open-source, which probably means PyTorch 2.0 significantly outperforms. #Genomics
#AI
https://t.co/ttPSeV5Vjq

[Bret Bostwick @bretbostwick]

I hope this comes sooner than later. https://t.co/zcMQ1NjBef