Be among the first to learn about our new multidisciplinary training area: Artificial Intelligence and Emerging Technologies in Medicine in the Biomedical Science PhD program. Register today for the information session to learn more: mshs.co/3xqUpcI

If interested in a postdoc position with Vikas Pejaver, send your CV, proposed research plan, and cover letter to [email protected] 🧬

My lab at Mount Sinai Institute for Genomic Health is hiring postdocs if you are interested in working with one of the most diverse EHR-linked biobanks (BioMe) and genomics of infection and immunity in diverse populations come talk to me. #ASHG2022

This did the rounds after my talk yesterday but reposting. For any #ashgtrainee interested in variant impact prediction, deep phenotyping or machine learning, we have multiple flexibly funded postdoc positions open. I'm at #ASHG2022. DM me if you'd like to meet to learn more.

ASHG President Charles Rotimi will be presenting the Early Career Award 2022 to our IGH Director and ✨shining star✨ Eimear Kenny at the Awards Recognition II Ceremony in the West Building ProgNbr 218 at 5pm PT / 8pm ET. #ASHG22 ASHG #WomenInSTEM

#ASHG22 friends, come check out my talk today today at 2:30 in Petree D! There will be fish pics~

Heidi Rehm - VUS are not all alike. Large study (on MedRxiv) comparing VUS rates from panels and exome/genomes. Much higher rate of VUS on panels. Overall 1/3 of test results now have a VUS on the report. Is that a good thing and reconsidering how we report VUS. #ASHG22

Breaking: 2023 variant classification guidelines from the expanded group of ACMG/AMP/CAP/ClinGen (per H. Rehm) will use a point system allowing for easier tiering, draft terms for VUS tiers are VUS-low, VUS-mid, VUS-high #ASHG22

Over the next five years, one million people treated at Mount Sinai who consent are to have their exomes sequenced to help discover new genetic links to disease, hugely expanding the genetic information available to researchers and clinicians. Learn more: mshs.co/3Mm9pPc

The Mount Sinai Million Health Discoveries Program is enrolling patients in research to make advances against inherited diseases such as heart disease, cancer, Alzheimer’s disease, and many more. Learn how at mountsinaimillion.org

Another NYCKidSeq paper out! Read our case series highlighting clinical experiences in identifying copy number variants using #genomesequencing Mount Sinai Institute for Genomic Health onlinelibrary.wiley.com/doi/10.1111/cg…

Can current genomic sequence-to-expression models explain expression variation across individuals based on their personal genome? In the Ioannidis Lab at UC Berkeley, we evaluated 4 state-of-the-art models for this (Enformer, Basenji2, ExPecto, Xpresso) biorxiv.org/content/10.110…

Here at #ccg2023, Les Biesecker talking about our in progress efforts developing the next sequence variant classification rules (v4). For a little more detail about some of the new terminology we're adding, defining classification and interpetation, see docs.google.com/document/d/1LK…

We studied how well "out-of-the-box" GPT-3.5 and GPT-4.0 map text to ICD billing codes. Bottom Line: These LLMs are poorly suited for mapping text to ICD codes on their own, frequently producing similar, but incorrect codes. medrxiv.org/content/10.110…

Join us in welcoming our new Post Doc Chad Hogan, who is joining faculty member Samira Asgari's (Samira Asgari | سمیرا عسگری) lab! #welcome #genetics #bioinformatics #infectiousdisease

Pleased to share our new preprint on using AI-generated models to explore the kinase conformational space. With Gaurav Pandey, Yan Chak (Richard) Li and others, we characterize druggable conformations via AlphaFold2, and share hundreds of these models. biorxiv.org/content/10.110…

This excellent work will be featured at the upcoming CAGI** Workshop (presentation by Clare Bycroft). Join us in Boston next week! Preliminary agenda available at genomeinterpretation.org/cagi-star-star…

Three next-gen computational tools (AlphaMissense, ESM1b, VARITY) now calibrated for clinical variant classification! They can reach Strong evidence for pathogenicity & Moderate for benignity, performing similarly to previous tools Vikas Pejaver bit.ly/44t30N7