Licensed Genetic Counselor @ the Broad Institute. Interested in scaling clinical genomics, data sharing, & variant curation. Opinions expressed are my own.
Joined October 2012
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Samantha Baxter retweeted
It’s genome time! nejm.org/doi/full/10.1056/NE…
Samantha Baxter retweeted
gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities:
1) Joint AN across all called sites in exomes and genomes
2) A flag indicating when exomes and genomes frequencies are highly discordant
Learn more at broad.io/gnomad_v4-1
Samantha Baxter retweeted
Today is #GeneticCounselorAwarenessDay! Genetic counselors are crucial members of our Broad community, and while we appreciate their hard work every day, today we'd like to celebrate them! You can learn more about the role our GCs play at Broad at: broad.io/GCDay2023
Samantha Baxter retweeted
With loss of function (LoF) variation, all may not be as it seems. Led by Moriel Singer-Berk, @s_gudmundsson, and @HeidiRehm, we advanced the framework, from Richards et al and Abou Tayoun et al, for using PVS1 for pLoF variants in pathogenicity classification. @AJHGNews 1/
Samantha Baxter retweeted
Meet Ryan!
"What became clear... is that not nearly enough is known about how it is that TANGO2 mutations... That is where the idea for the TANGO2 Research Foundation came from." - Mike & Kasha Morris
Read more at bit.ly/3tYIAs4 #TANGO2researchfoundation
Samantha Baxter retweeted
I'm aware that there are SEVERAL barriers for underrepresented folks to be a Genetic Counselor😫. If you know/are a future GC, enrollment for The GC Immersive REMOTE SHADOWING FREE program has been extended to next week! color.com/genetic-counseling… @Color #genechat #GCAwarenessDay
Samantha Baxter retweeted
"It is not enough to focus our energy on choice, but on who gets to choose and why" -@Reprorightsdoc
Dr. Perritt says addressing the intersectional oppression of reproductive rights demands that our approach changes the POWER dynamic. #NSGC21
#actingatheintersectionofinequity
Samantha Baxter retweeted
Please @twittersupport @jack help support millions with rare disease who need gnomad.broadinstitute.org. The owner of @gnomad, not used in 11yrs, will give us the handle but she forgot the email used and w/out that, you won’t help. Please support these families & open the account!
Samantha Baxter retweeted
We have launched a list of genomic analysis software platforms that meet minimum requirements for data sharing (clinicalgenome.org/platforml…). This parallels our “Lab List” at clinicalgenome.org/lablist, and continues ClinGen’s efforts to improve the quality of genetic testing. 1/3
Samantha Baxter retweeted
There is not one place I've worked or been associated with - clinical genetics laboratory, genetics clinic, autism/developmental medicine clinic, neurology clinic,... - where genetic counselors have not played an INTEGRAL role in genetic test ordering and interpretation. 1/2
Samantha Baxter retweeted
Today is #GeneticCounselorAwarenessDay! At Broad, we have 4 full-time employees, 3 affiliate members, and 15+ other genetic counselors who work to support Broad research. #IAmAGeneticCounselor #GCchat #GCAwarenessDay
Samantha Baxter retweeted
Following a successful first run, our Broad CMG/ClinGen course on "Interpreting Genomes for Rare Disease: Variant and Gene Interpretation" will be held again on May 15-16, Cambridge, MA @broadinstitute Early bird registration March 31 - learn more here: bit.ly/2HyyZSD
Samantha Baxter retweeted
Back by popular demand! Sign up for our Broad CMG/ClinGen "Interpreting Genomes for Rare Disease: Variant and Gene Interpretation Course" May 15-16, Cambridge, MA @broadinstitute Early bird registration ends March 31, learn more and register here: bit.ly/2HyyZSD
Samantha Baxter retweeted
Congrats to “BRCA Exchange as a global resource for variants in BRCA1 and BRCA2” authors on their pub in @PLOSGenetics ncbi.nlm.nih.gov/pubmed/3058… @brcaexchange @GA4GH @NCIChanock @NCIEpiTraining @theNCI @BroadGenomics @huntsmancancer @broadinstitute @QIMRBerghofer @cookdeegan #BRCA
Samantha Baxter retweeted
We are delighted that ClinGen has received this recognition! A big thank you to the productive work with the @US_FDA and all of the members of @ClinGenResource Expert Panels that are volunteering their time to ensure patients get the most accurate genetic results!
Today the FDA is recognizing the genetic variant information @ClinGenResource as the first FDA-recognized publicly-available human genetic variant database. 🧬go.usa.gov/xPzDk
Samantha Baxter retweeted
I am so tired of hearing only about conflict of interest for industry roles. Are those GCs in clinical roles not employed by anyone? Are they not paid just as we are? Are they not biased towards whatever hospital they work at? Rant over. 🙄 #NSGC18