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Marilyn Li discusses cancer variant reporting. Recommends reporting pertinent negatives in disease specific manner. Also use HUGO nomenclature. ISV workgroup reviewing VITAL results and will be publishing updated guidance this year. #ACMGMtg24

Resource with point system to evaluate oncogenicity of somatic variants #ACMGMtg24 pubmed.ncbi.nlm.nih.gov/35101336/

Link to join ClinGen somatic effort clinicalgenome.org/working-groups… #ACMGMtg24

Somatic variants starting to be deposited in clinvar. Won’t be reporting conflicts in interpretation since can be diff tiers in diff tissues. Submitted classification should be for certain tissue and also if tier is based on prognosis, dx or tx #ACMGMtg24

In this #AMPtutorials, we will discuss a very important topic in the practice of routine molecular diagnostics: microsatellite instability (MSI) and deficient mismatch repair (dMMR) testing. (Thread 🧵1/11). Disclaimer: This educational resource does not constitute medical or

I’ll be running the Monument Ave 10k next week. You join me in supporting the Massey Cancer Center at VCU (Virginia Commonwealth University) by donating here: teammassey.org/masseychalleng…. Thank you!

A platform to enhance the production, sharing, and use of scholarship on the Ethical, Legal, and Social Implications of genetics and genomics. A resource for enhancing bioethics education. elsihub.org

PGED raises awareness and inspires curiosity, dialogue, and reflection about genetics. Another resource for genetics education pged.org

Guidance on data collection in genomics research regarding sex and gender “… ways that clinicians and researchers can-and should-harness the scientific, social, and cultural power of genomics …” pubmed.ncbi.nlm.nih.gov/38637989/

Ask your Senators and Representatives to support the Congressional Review Act to oppose the FDA's Final Rule (and support laboratory testing). congressweb.com/AssociationMP/… #

What it’s like to be in healthcare right now: “We will pay you $2 for that pie” “But it costs me $4 in pie ingredients and $2 in human labor to make a pie. We need $6 to break even” “Sorry, we’ll only pay you $2 for that pie. We suggest you make many more pies that you also

What Kamala Harris’s historic bid for the US presidency means for science nature.com/articles/d4158…

Colin Farrell Starts Foundation in Honor of Son, Who Has Angelman Syndrome people.com/colin-farrell-…

#GeneChat Still confused on what the CPT code change means for #geneticcounselors? One major (and exciting) change is that it expands the role of the genetic counselor. #genechat #precisionmedicine

Leonard Hayflick, Who Discovered Why No One Lives Forever, Dies at 96 - The New York Times nytimes.com/2024/08/17/sci…

Experimental drug showing effects for patients with Fragile X syndrome npr.org/sections/shots…

#Photos: #Billsmafia routs the 49ers in a snowglobe 35-10 buffalonews.com/multimedia/pho… Buffalo News Sports The Buffalo News katherine fitzgerald Ryan O'Halloran Mark Gaughan Jay Skurski

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for the motor-neuron condition while in the womb. go.nature.com/4i9BpEx