If you come to Montefiore Health System Albert Einstein College of Medicine - Official to develop as a physician-scientist working on clinical genetics, you can use GenomeDiver, or work with my group on (however you define) #epigenetics! ASHG ACMG #ClinicalGenetics #genetics #facultyjobs #genomics

Thanks to our colleagues at the Albert Einstein College of Medicine - Official Montefiore Health System 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.

At our CSER Fall 2021 meeting, distressing to hear that the response to this NEJM article was less than hoped. Please read and retweet. nejm.org/doi/full/10.10… Authors Akinyemi Oni-Orisan, PharmD, PhD Y_Mavura Ronnie Sebro, Yambazi Banda and Timothy Thornton

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!

HT Sara Kalla 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 medrxiv.org/content/10.110…

Interested in the intersection between cancer genomics and population health in the most diverse county in the USA? We have a position for you. linkedin.com/jobs/view/prof… #Bronx

A few questions about this The New York Times piece: Isn’t this what screening tests are meant to do? 1/ When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong nytimes.com/2022/01/01/ups…

Outstanding TEDx talk by one of our #GenomeDiver creators Nathan Pearson The splendid tapestry: How DNA reveals truths, ancient & lasting | Nathan Pearson | TEDxBoston youtu.be/-dEL2yhT7Uo

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

Powerful evidence from Medical Genomics that updated phenotypic information is a major driver of success in re-analysis of previously negative genomic testing: sciencedirect.com/science/articl…

Valuable work from Peter Robinson and the Phenopackets group

The #GenomeDiver team is delighted to congratulate Eimear Kenny for this well-deserved recognition!

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. einsteinmed.edu/centers/iddrc/…

The National Human Genome Research Institute 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 CSER cases can yield new diagnoses. Great to get the team back together!

Yes indeed. This is why GenomeDiver exists. Exome re-analysis driven by deep phenotyping increases diagnostic yield medrxiv.org/content/10.110…

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/

This is big. The #GenomeDiver team is now working with the Peter Robinson group at The Jackson Laboratory to develop a combined #LIRICAL - #GenomeDiver resource that will combine reverse phenotyping with variant prioritisation and exploration. The joint product should be a gamechanger.

Yes indeed say all of us here in the #GenomeDiver team cell.com/ajhg/fulltext/…

Advanced phenotyping using #GenomeDiverLR at The New York Center for Rare Diseases coming soon, clinical trial with National Human Genome Research Institute underway

Our GenomeDiver and NYCKidSeq teams are heartbroken to learn of the passing of Faygel Beren snbc13.com/faygel-beren-s… Her inventiveness, enthusiasm and optimism were infectious, we will miss her. Our condolences to her family and friends.