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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
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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Hutton Kearney retweeted
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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Hutton Kearney retweeted
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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Hutton Kearney retweeted
ACMG Jan 30
A wide Deciphering Developmental Disorders study reported a diagnostic yield of 27% through whole-exome sequencing of 1,133 children with severe developmental disorders and their parents
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Hutton Kearney retweeted
Daniel MacArthur Jan 25
Excited to announce the beta release of a new version of the gnomAD browser, thanks to heroic work by . We’re looking for test users to check their favorite genes and give us feedback on the new features - check it out:
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Hutton Kearney retweeted
Genetics in Medicine 10 Apr 17
Working together - Clinical labs collaborate to resolve differences in variant interpretations submitted to ClinVar
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Hutton Kearney retweeted
Genome Research 11 Apr 17
The enduring quality of the GRCh38 human reference assembly - time to make the switch
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Hutton Kearney 9 Mar 17
Replying to @theMrOlson
thank you and Folwell's wonderful staff for creating such a memory for our kids. The gym could not even hold all of that happy!
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Hutton Kearney 9 Mar 17
Go Fifth Grade!!! Teachers never stood a chance!
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Hutton Kearney 9 Mar 17
Come join me to toast McKinsey, Brittany, and Teresa on the launch of their new book!
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Hutton Kearney retweeted
nature 18 Aug 16
On the cover this week: The Human Exome
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Hutton Kearney retweeted
Daniel MacArthur 17 Aug 16
I'm delighted to announce the (open access) publication of the ExAC paper in Nature:
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