Certain rare disorders affect less than one in a million. We strive to find answers for each and every patient by harnessing the latest #technology and #geneticknowledge.
Become part of the crew that makes a difference. Visit https://t.co/IfTYe9XPbJ
#careers#workthatmatters
FDA has been requesting feedback on their proposed AI/ML Software-as-Medical-Device (SaMD) framework, and our comments (@BpGenetics) were just published. Check out the thread below! #SaMD#AI#MachineLearning#healthcare
"Okay, it's a VUS. Now what?" If you missed the talk but are interested in the answer, you can still ask the question directly to @SeppalaEija, Senior Geneticist at @BpGenetics booth 220 today! #eshg2019#VUS#GeneticTesting
If you are wondering what to do when a variant reported for your patient is a VUS or just want to ask questions to our expert @SeppalaEija, come to booth 220 at 14:40! #eshg2019#genetics#GeneticKnowledge
Amazing talk from Guillaume Canaud @CanaudLab showing incredible results for treatment of CLOVES syndrome! The talk ended with the longest round of applause ever seen in a conference. Thank you for this very inspiring moment. #eshg2019
If you want to grab lunch AND learn how high resolution CNV can make the difference for your patient, join us Room A-3 at 12:15 today! #eshg2019#geneticknowledge#lunch
Join our #ESHG2019 lunch seminar on Saturday Room A-3, 12:15-13:45 with Johanna Sistonen & @eve_salminen to hear how high resolution CNV detection and capabilities in difficult-to-sequence regions translate to improved diagnostic yield for the benefit of your patient. #Genetics
Read our latest news: Blueprint Genetics expands in North America by building a new CLIA/CAP NGS facility in Seattle. Hear more from @talastal@JennSchleit & Willonie Mendonca: https://t.co/FNy0SgPWza #genetics#genetictesting
@YuanJi1 Hi @YuanJi1, the session was "Improved Diagnostic Yield in Rare Hereditary Disorders: Meeting Clinical Needs Using Optimized Sequencing Solutions for Copy-Number Variations and Difficult-to-Sequence Regions". Here's the recording: https://t.co/9YJNnK0Iq4 🙂
#ACMGMtg19 talk: Join us to hear more about our #WholeExomeSequencing platform and how it has been tailored to improve the diagnostic yield. Including case examples and evaluation of performance with analytic validation. Time: 12:30 pm – 1:00 pm, place: Exhibit Theater 2.
Familiar with our online portal Nucleus? Or an existing user with an idea? Our digital CX manager @thomasvincentm is at booth 805 showing a demo of Nucleus & its feature, Connecting Clinicians, which connects clinicians based on matching rare variants. Come say hello! #ACMGMtg19