Jennifer Schleit, PhD FACMG

I am a genetics geek (molecular geneticist) working at #RCIGM. I run, bike, curl, hike and am looking for the best hot chocolates. Opinions are my own.

[Jennifer Schleit, PhD FACMG @JennSchleit]

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

[Jennifer Schleit, PhD FACMG @JennSchleit]

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

[Jennifer Schleit, PhD FACMG @JennSchleit]

#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?

[ClinGen @ClinGenResource]

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

[Daniel MacArthur @dgmacarthur]

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: https://t.co/5apw1yCfD8 #ASHG23

[Jessica Chong @jxchong]

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

[Jennifer Schleit, PhD FACMG @JennSchleit]

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

[Sharon Plon @splon]

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.

[Jennifer Schleit, PhD FACMG @JennSchleit]

This was a great talk at #ASHG23

[Eveliina Salminen @eve_salminen]

Fascinating talk on Huntington’s disease and somatic expansion in spesific neuronal subtypes. Results suggesting decades of quite stable expansion in neurons, then more rapid expansion (years) and after 150 repeats, rapid changes in expression and neuron death. #ASHG2023

[Genome Aggregation Database @gnomad_project]

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)

[Rady Genomics @RadyGenomics]

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: https://t.co/LgC1jLcay8

#genomics #WholeGenomeSequencing #newbornscreening #raredisease

[Ghayda Mirzaa, MD @ghaydamirzaa]

Happy to share our latest paper: Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dy... https://t.co/Vwh83B2Wsq

[AGBT Meeting @agbt]

🚨 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!

[Heidi Rehm @HeidiRehm]

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: https://t.co/kUrwpU8SWK

[ACMG @TheACMG]

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

[Rady Genomics @RadyGenomics]

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. https://t.co/sr80RCLfjF

[ACMG @TheACMG]

Tune in to the July 2023 episode of GenePod, @GIMJournal’s monthly podcast, at https://t.co/hnMtZTktJo #genetics #genomics #medicalgenetics #clinicalgenetics #medicaleducation #genepod #geneticsinmedicine #gimjournal

[Rady Genomics @RadyGenomics]

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: https://t.co/ZtyJ4jyfqi

[ClinGen @ClinGenResource]

The Intellectual Disability and Autism Gene Curation Expert Panel is looking for biocurators to help evaluate the strength of gene-disease relationships. Visit https://t.co/QD3sChSB9P and choose comprehensive training in order to start curating with the ID/A GCEP today!

[Rady Genomics @RadyGenomics]

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: https://t.co/vqSzPL4d0L

#genomics