
Chrissy Austin-Tse
@caustintse
Clinical Molecular Geneticist @MassGeneral @BroadInstitute | Opinions my own
ID: 3342914271
23-06-2015 18:08:41
10 Tweet
66 Followers
86 Following

Eager to share this case —a reminder all that not all diabetes in pregnancy is type 1, type 2, or gestational! Miriam Udler Case 6-2020: A 34-Year-Old Woman with Hyperglycemia | NEJM nejm.org/doi/full/10.10…


New in Genetics in Medicine: Traditional approach: choose gene seq panel based on patient’s history — often inefficient and requiring multiple tests for diagnosis. New approach: 1 test — genome sequencing — for all indications. Feasible in clinical practice? tinyurl.com/53waf7sx


Looking forward to sharing this important work on behalf of the Medical Genome Initiative initiative!

Our paper on best practices for clinical genome interpretation and reporting is finally out! So honored to have led this fantastic Medical Genome Initiative initiative effort.

Please join us on May 18th @ 9am PST to hear Dr. Chrissy Austin-Tse talk about our recent publication on best practices for clinical genome sequencing interpretation and reporting. Registration and free and open to all! eventregistration.illumina.com/MGI2022


.Monica Hsiung Wojcik was asked and wanted to know - Is genome sequencing just a fancy exome? Or should we pursue it for patients with rare disease who remain undiagnosed after clinical exome sequencing? So she and Gabrielle Lemire investigated… 1/