Jennifer Schleit, PhD FACMG

#P1live what can be done to get more young drivers into race seats?

#P1live what can we realistically expect from Audi, given the performance we're seeing from Stake?

#P1live F1 seems to have become a wind tunnel competition of late. Are we going to see increased on track disparity between the wind tunnel haves and have-nots?

Don't miss today's ClinGen-related poster presentations at #ASHG23.

Next up is Katherine Chao covering all the juicy details of the @gnomad_project v4 release - over 800K individuals, including a tripling of the number of non-European individuals vs previous releases. Details here: gnomad.broadinstitute.org/news/2023-11-g… #ASHG23

I’ll be at my poster 4876 for this session about a predictor for future Mendelian disease genes. How many do you think there are? #ASHG23 @GREGoR_research

Come see me today at poster 3450 to learn more about the BeginNGS #newbornscreening project at #ASHG23.

Koyabashi - Invitae - #ASHG23 looking at reclassification over 8 years. Of LP variants 99.8% went to P and only 0.16% went downgrade. 98.5% of LB went to B and showed that many more could have. Reclassified 70K VUS. 80% went Benign, remainder towards Pathogenic.

This was a great talk at #ASHG23

As part of #gnomAD v4, in collaboration with the @TalkowskiLab, we have released 1,199,117 genome SVs and 66,903 rare exome CNVs. These data represent the first gnomAD SV dataset released native to the GRCh38 reference genome. (1/2)

Meredith Wright, RCIGM Genomics Development Scientist, will provide a @Begin_NGS update at #ICoNS23 on Fri, 10/6, at 11:45am GMT in London. More info about @ICoNSeqOrg: iconseq.org/home-1-1 #genomics #WholeGenomeSequencing #newbornscreening #raredisease

Happy to share our latest paper: Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dy... sciencedirect.com/science/articl…

🚨 REMINDER 🚨 Today is the LAST DAY for early bird registration and late-breaking abstract submissions for AGBT Precision Health 2023! Don't miss the opportunity to share your work among the top names in the field!

Online Course: Genomic Medicine in Clinical Practice Learn how to integrate genetic testing into your clinical care. Register now and begin course work as soon as Aug 2 before your fall gets too busy. Designed for clinicians, open to all. Register by 7/24: hvrdct.me/vzj

The ACMG supports passage of the Saving Access to Laboratory Services Act (SALSA) and has joined 33 organizations as signatories on a letter to Congress urging that they take immediate action.” #SALSA

Join a team that is pioneering the future of #genomics. #TeamRadyGenomics is #hiring a Clinical Genomic Analyst. This individual will work alongside scientists, bioinformaticians, nurses & clinicians to help analyze and interpret genomic patient data. jobs.rchsd.org/job/san-diego/…

Tune in to the July 2023 episode of GenePod, @GIMJournal’s monthly podcast, at bit.ly/3XSYti0 #genetics #genomics #medicalgenetics #clinicalgenetics #medicaleducation #genepod #geneticsinmedicine #gimjournal

The GEMINI study revealed that #WholeGenomeSequencing had a much higher diagnosis rate of 49%, compared to the standard gene panel's 27%. This emphasizes the potential of whole genome sequencing as a more effective diagnostic tool. More in @statnews: statnews.com/2023/07/11/inf…

The Intellectual Disability and Autism Gene Curation Expert Panel is looking for biocurators to help evaluate the strength of gene-disease relationships. Visit clinicalgenome.org/volunteer and choose comprehensive training in order to start curating with the ID/A GCEP today!

The GEMINI study, led by researchers at @TuftsMedicalCtr, has found #WholeGenomeSequencing to be nearly twice as effective as a targeted gene sequencing test at diagnosing genetic disorders in newborns & infants. Full study in @JAMA: jamanetwork.com/journals/jama/… #genomics