Chrissy Austin-Tse (@caustintse) 's Twitter Profile
Chrissy Austin-Tse

@caustintse

Clinical Molecular Geneticist @MassGeneral @BroadInstitute | Opinions my own

ID: 3342914271

calendar_today23-06-2015 18:08:41

10 Tweet

66 Followers

86 Following

Camille E. Powe MD (@cepowemd) 's Twitter Profile Photo

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…

Genome Aggregation Database (@gnomad_project) 's Twitter Profile Photo

Another #gnomAD browser update! On variant pages you can now quickly switch between genome builds and gnomAD versions using our new liftover feature. This is available on v2 and v3 variants (1/2).

Another #gnomAD browser update! On variant pages you can now quickly switch between genome builds and gnomAD versions using our new liftover feature. This is available on v2 and v3 variants (1/2).
DeannaBrockman (@deanna_brockman) 's Twitter Profile Photo

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

New in <a href="/GIMJournal/">Genetics in Medicine</a>:
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
Chrissy Austin-Tse (@caustintse) 's Twitter Profile Photo

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.

Medical Genome Initiative (@medical_genome) 's Twitter Profile Photo

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

Genome Aggregation Database (@gnomad_project) 's Twitter Profile Photo

The #gnomAD browser now includes variant co-occurrence counts by gene. We hope this will help with interpretation of co-occurring variants in the context of recessive conditions. Read more about this feature on our blog post broad.io/gnomAD_co_occu… #ACMGMtg23

The #gnomAD browser now includes variant co-occurrence counts by gene. We hope this will help with interpretation of co-occurring variants in the context of recessive conditions. Read more about this feature on our blog post broad.io/gnomAD_co_occu… #ACMGMtg23
Anne O'Donnell-Luria (@anneotation) 's Twitter Profile Photo

.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/