We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine buff.ly/414Xajk Please RT or share w/ those who may be interested.
Heidi Rehm
@HeidiRehm
Currently inactive due to ownership of platform. Rare disease researcher and clinical lab director; MGH and @broadinstitute
335 Following 7.8K Followers 839 Posts
Latest posts 5
I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!
Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!View quoted post on X
Just started using Buffer to simultaneously post on @bsky.app, LinkedIn, and X/Twitter as I make my gradual shift away from the toxic and biased world of X....
Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. buff.ly/3Cpx5RL
See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!
GIM's Senior Technical Editor Peter Freeman collaborated with other experts on "Standardizing variant naming in literature with VariantValidator to increase diagnostic rates", now available in Nature Genetics bit.ly/3BF83OnView quoted post on X
