Vice Chair, Hereditary Genomics; Mayo Clinic Division of Laboratory Genetics and Genomics. Clinical cytogeneticist/molecular geneticist ((all views my own))
ACMG stands by patients’ rights to make informed reproductive health decisions and to safeguard their access to all reproductive options. Read joint response by ACMG, ASHG and NSGC @GeneticsSociety & @GeneticCounsbit.ly/3nd86X5
We are proud to announce the #T2T-CHM13 v2.0 assembly is now available in the Genome Browser. We have also added a slew of features to facilitate use and annotation visualization on this assembly.
See our news for more: bit.ly/T2T-CHM13GB
ALT T2T-CHM13 now available in the Genome Browser.
Call for Proposals for #ACMGMtg23! The ACMG is accepting session proposals for the 2023 ACMG Annual Clinical Genetics Meeting in Salt Lake City. The deadline is April 29, 2022. Go to bit.ly/3jo5zYl. Questions? Contact education@acmg.net
Very proud of this manuscript and grateful for the @medical_genome network of colleagues generously sharing their expertise! @HeidiRehm@CAustintse @sari_barn @dmlaut
Check out our latest paper in #npjGenomicMedicine where we present recommendations for the interpretation and reporting of clinical genome sequencing! Be sure to check out the Supplement for a wealth of @medical_genome compiled resources. rdcu.be/cKWov
For those of us outside of #Ukraine, the war is remote; horrific images on news channels - hard to really comprehend. A colleague, Kateryna Terletska, an academic from #Kyiv, has let me share the story of her family's escape and the traumatic losses and guilt she is bearing.🧵1/
Out now, ‘A Joint NCBI & EMBL-EBI Transcript Set for Clinical Genomics and Research’, a collaboration btw @ensembl/@gencodegenes & @ncbi to produce a genome-wide transcript set (MANE Select) that has one well-supported transcript per protein-coding locus. nature.com/articles/s41586-0…
One week ago, @CAustintse gave a fantastic presentation at #ACMGMtg22 highlighting our consensus recommendations for interpreting and reporting clinical genomes. Don't worry if you missed it - she'll be giving an encore presentation at our next webinar later this month!
A special section in this week's issue of Science presents research by the Telomere-to-Telomere (#T2T) Consortium, which has completed a challenging 8% of the human genome left unresolved by the initial Human Genome Project.
Read more: fcld.ly/30edgue
Robust analytical verification and interpretation are key to unlock the power and diagnostic strength of genome sequencing in rare disease. Mayo Clinic experts, including Heidi Sellers, present best practices to maximize the impact of WGS on the diagnostic odyssey at #ACMGMtg21
Mayo Clinic is expanding the boundaries of genomic evaluation to include the methylome, which can shed light on many previously unsolved diagnostic odysseys. @koleilat_alaa presents experiences of applying this new exploratory tool in diagnosing rare disorders at #ACMGmtg22.
Attending #ACMGMtg22? Stop by poster 12294 for a discussion with our fellow, Dr. Lauren Choate about Mayo experiences with gender and sex discordance in genetic testing.
Meet Cherisse Marcou, PhD, FACMG, a lab geneticist who believes precision medicine should be available and equally impactful to all and contributes her expertise to find solutions to improve healthcare delivery. #MedicalGeneticsAwareness#IamaLabGeneticist#precisionmedicine
This is so true @RehderCatherine! My career was shaped so significantly by @ACMG committee service. It’s so important for young professionals and trainees to get involved!
Yeast grows, needs genes. Makes match error, often pairs helix wrong. Yeast fixes loops. Learn which genes cause. Apply model. Think. Write. Prove! Study human genes.
New game for #academictwitter: wordle your thesis.
I’ll go first…
Could folks learn truth about cause/effect links using smart ideas added where stats stops? Maybe! Fancy tools often score great. Other times, these tools score badly.
Tom Petes, the Minnie Geller Distinguished Professor of Research in Genetics, will receive the Lifetime Achievement Award in the field of yeast genetics and outstanding community service from the Genetics Society of America (GSA). bit.ly/3LZQ71E@DukeUPGG@GeneticsGSA
ALT Tom Petes, the Minnie Geller Distinguished Professor of Research in Genetics