GenomeDiver

GenomeDiver: the phenotyping tool for genomic diagnostics.

[GenomeDiver @GenomeDiver]

Our @GenomeDiver and @NYCKidSeq teams are heartbroken to learn of the passing of Faygel Beren
https://t.co/K8jjMzoUzT

Her inventiveness, enthusiasm and optimism were infectious, we will miss her. Our condolences to her family and friends.

[GenomeDiver @GenomeDiver]

Advanced phenotyping using #GenomeDiverLR at @NewYorkCRD coming soon, clinical trial with @genome_gov underway

[John Greally @greally]

Follow us on @NewYorkCRD

[GenomeDiver @GenomeDiver]

Yes indeed say all of us here in the #GenomeDiver team

https://t.co/SHwC8eRQTj

[GenomeDiver @GenomeDiver]

This is big. The #GenomeDiver team is now working with the @pnrobins group at @jacksonlab to develop a combined #LIRICAL - #GenomeDiver resource that will combine reverse phenotyping with variant prioritisation and exploration.

The joint product should be a gamechanger.

[John Greally @greally]

OK, this is a combination of a mild rant and a targeted question.

I have a patient with one of these awful, misleading, anxiety-inducing variants of uncertain significance (VUS). Everything bad about modern medical genomics is embodied in this useless category of result. 1/

[GenomeDiver @GenomeDiver]

Yes indeed. This is why GenomeDiver exists.

Exome re-analysis driven by deep phenotyping increases diagnostic yield https://t.co/eYnL9XK8fy

[GenomeDiver @GenomeDiver]

The @genome_gov funding for a clinical trial of #GenomeDiver has come through this week!

We are excited to test how reverse phenotyping in follow up of undiagnosed @NYCKidSeq @hail_CSER cases can yield new diagnoses.

Great to get the team back together!

[John Greally @greally]

T32 training grant (US citizens/green card holders) to study non-coding variants in developmental disorders.

Now focusing on getting a computational genomics researcher for this position, a lot of fascinating work out there to be tackled.

https://t.co/UqBL8s1eWk

[GenomeDiver @GenomeDiver]

The #GenomeDiver team is delighted to congratulate @EimearEKenny for this well-deserved recognition!

[ASHG @GeneticsSociety]

🏆 ASHG is proud to announce the recipients of the 2022 Annual Awards, which honor outstanding scientific achievements as well as significant contributions to genetics & genomics education, mentorship, & advocacy: https://t.co/xspLcfr8mT

[GenomeDiver @GenomeDiver]

Valuable work from @pnrobins and the @phenopack group

[Nature Biotechnology @NatureBiotech]

The GA4GH Phenopacket schema defines a computable representation of clinical data https://t.co/EVeFB7jmbz

[GenomeDiver @GenomeDiver]

Powerful evidence from @TeamNicWaddell that updated phenotypic information is a major driver of success in re-analysis of previously negative genomic testing:
https://t.co/eEjYRnHeNc

[GenomeDiver @GenomeDiver]

Recognising the amazing families who care for those with rare diseases on #RareDiseaseDay2022.

[GenomeDiver @GenomeDiver]

Outstanding @TEDx talk by one of our #GenomeDiver creators @GenomeNathan

The splendid tapestry: How DNA reveals truths, ancient & lasting | Nathan Pearson | TEDxBoston
https://t.co/jwAbMRCZwr

[John Greally @greally]

A few questions about this @nytimes piece:

Isn’t this what screening tests are meant to do? 1/

When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong https://t.co/K4GSfKozdo

[John Greally @greally]

Interested in the intersection between cancer genomics and population health in the most diverse county in the USA? We have a position for you.
https://t.co/YjEp2su7XY
#Bronx

[GenomeDiver @GenomeDiver]

HT @biogeniusgirl

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program https://t.co/o8ZUVBlAIv

[John Greally @greally]

Opened NIH Commons just now.

Our @genomediver grant scored on 3rd centile. Initial feeling of mild regret it didn't make first centile, but we'll take it -- looking forward to getting the team busy again!

[GenomeDiver @GenomeDiver]

At our @hail_CSER Fall 2021 meeting, distressing to hear that the response to this @NEJM article was less than hoped.

Please read and retweet.
https://t.co/0HF8qgt6vK
Authors @Akinyemi_OO @mavura_y Ronnie Sebro, Yambazi Banda and Timothy Thornton

[GenomeDiver @GenomeDiver]

Thanks to our colleagues at the @EinsteinMed @MontefioreNYC Center for Health Data Innovations for embedding #GenomeDiver into an Epic tab.

This is how we can enhance rare disease diagnostics, with clinician input, directly in the EHR.

[GenomeDiver @GenomeDiver]

@laurahercher And re-testing should ideally involve an update of the phenotype, not just variant re-classification.