Vice Chair, Hereditary Genomics; Mayo Clinic Division of Laboratory Genetics and Genomics. Clinical cytogeneticist/molecular geneticist ((all views my own))
@clesemartin@Marc_GeneDoc@ErinFalsey@GeisingerRsrch Reminds me of a lab member who was used for a FISH control many years ago and was found to have the recurrent 22q duplication. His response after it all sunk in “Man, I could have been a GENIUS!”
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 & @GeneticCouns https://t.co/OR6r7zHimf
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: https://t.co/ebKmzRYEXZ
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 https://t.co/9mZCAKiN6q. Questions? Contact [email protected]
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. https://t.co/G6X0l1jmhh
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. https://t.co/e3C7LYTITu