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Hutton Kearney
Section Head, Hereditary Genomics; Mayo Clinic Genomics Laboratory. Clinical cytogeneticist/molecular geneticist [all views my own]
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Hutton Kearney retweeted
Heidi Rehm Oct 20
Thanks to everyone who wrote letters - we were successful in getting CMS pricing for genome analysis reimbursement changed from $349 to $5031!
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Hutton Kearney Oct 17
Thank you Jillian for sharing your experience and leading patient advocacy efforts.
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Hutton Kearney Oct 17
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Hutton Kearney retweeted
Daniel MacArthur Oct 17
With the dramatically increased size of this data set we can move away from using the pLI metric, and instead switch directly to the observed:expected ratio of LoF in that gene. (In fact, the upper bound of the 90% confidence interval of o/e).
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Hutton Kearney retweeted
Daniel MacArthur Oct 17
KK: The new data set is live, with an awesome new browser! Thanks to the tireless work of our engineering team, Nick Watts and , working right up to about 3 minutes before this talk (DM: can confirm.).
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Hutton Kearney Oct 17
Released today: gnomAD 2.1
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Hutton Kearney retweeted
Obi Griffith, PhD Oct 16
Had a great pre- cancer variant and curation jamboree with team, , and more, hosting and support from and ISB .
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Hutton Kearney Oct 16
I think the meeting organizers underestimated attendee interest in the GRC/GIAB workshop. We are spilling out into the hallway!!
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Hutton Kearney Oct 16
GRC: “indefinite postponement of GRCh39”, instead will provide iterative improvements to GRCh38. “If you have been holding off on adoption of 38 and are instead waiting to jump to 39...please don’t!”
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Hutton Kearney retweeted
Gautam Kollu Jun 10
We’ll look back and wonder why there ever was a debate (outside of ivory towers) about sequencing acutely ill kids
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Hutton Kearney May 24
Gaining on it, guys....
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Hutton Kearney May 24
NIH ClinGen Cardiovasular Channelopathy Working Group: Expert review of genes associated with Brugada syndrome and common on diagnostic panels. 20/21 unanimously found to be lacking sufficient evidence for causation.
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Hutton Kearney retweeted
Ensembl Apr 10
We're working with our colleagues at to unify our transcript set and identify a "primary transcript" + clinically relevant transcripts per gene. If you use transcripts and would like your say on how we define "primary", please fill in our survey
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Hutton Kearney May 23
Really nice talk by Christa Martin on the upcoming ACMG-ClinGen guidance/framework for copy number variation. Hours and hours of hearty professional disagreement and compromise rolled into a really pleasant summary!
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Genetics in Medicine Mar 22
Caveat emptor! High false positive rate in direct-to-consumer genetic test results questions the validity of such offerings
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Erica Ramos Mar 8
For a deep dive into the issues surrounding 23andMe’s offering, I highly recommend this piece. Includes an important perspective from Dr. Mary-Claire King.
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Hutton Kearney Mar 7
Replying to @AllostEricSite
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Hutton Kearney retweeted
U.S. FDA Mar 6
FDA authorizes, w/ special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes. Test only reports 3 out of more than 1,000 known BRCA mutations & negative result doesn’t rule out increased cancer risk
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Hutton Kearney retweeted
Nature Genetics Mar 5
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence (Goldmann et al.)
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Hutton Kearney retweeted
National Human Genome Research Institute Mar 1
ICYMI & just launched a new match-making service between genes/gene variants and researchers who study them. The Genomic Ascertainment Cohort will be based in the Wash, D.C. area so researchers can recall genotyped individuals.
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