Hutton Kearney
277 posts
Hutton Kearney
@Hutton
Vice Chair, Hereditary Genomics; Mayo Clinic Division of Laboratory Genetics and Genomics. Clinical cytogeneticist/molecular geneticist ((all views my own))
Rochester, MN Se unió Mart 2008
346 Siguiendo264 Seguidores
@AllostEricSite I got my first ransom a few days ago. Blocked. No qualms.
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@AllostEricSite @HarvardBooks @jennyslate I devoured ‘Little Weirds’. It was so beautiful and funny and touching…and just so, so wonderful.
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@AllostEricSite Best week…but if I had to eat one of those smörgåstårta, I would have a very hard time. They were beautiful, but…
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@splon Our masking requirements in non-patient areas (e.g. my lab) were just discontinued. I wasn’t expecting that today…
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Boarding a packed plane to Boston and my family really appears to be the only ones wearing masks. America is living with COVID.
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@clesemartin @Marc_GeneDoc @ErinFalsey @GeisingerRsrch Reminds me of a lab member who was used for a FISH control many years ago and was found to have the recurrent 22q duplication. His response after it all sunk in “Man, I could have been a GENIUS!”
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@Marc_GeneDoc @ErinFalsey @GeisingerRsrch Asymptomatic until you take a closer look... lots of variable expressivity... and why it's so important to take a quantitative approach to understanding phenotypes rather than dichotomous!
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One year working in Pediatrics and I’ve found so many asymptomatic parents with pathogenic chromosome deletions that I am that convinced I have one… along with so much more of the population than we think 🤔
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Hutton Kearney retuiteado
ACMG stands by patients’ rights to make informed reproductive health decisions and to safeguard their access to all reproductive options. Read joint response by ACMG, ASHG and NSGC @GeneticsSociety & @GeneticCouns bit.ly/3nd86X5
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@lizmizerik And not just probe coverage. Sometimes the same array reviewed/reported with different laboratory criteria will change a diagnosis.
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#GeneChat fact for the day: not every CMA is equal. Probe coverages varies between labs. I’ve seen CMAs repeated at a different lab and it yields a diagnosis.
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Hutton Kearney retuiteado
Days until password expiration: 9
Days until I will change my password: also 9
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Hutton Kearney retuiteado
We are proud to announce the #T2T-CHM13 v2.0 assembly is now available in the Genome Browser. We have also added a slew of features to facilitate use and annotation visualization on this assembly.
See our news for more: bit.ly/T2T-CHM13GB
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Hutton Kearney retuiteado
Call for Proposals for #ACMGMtg23! The ACMG is accepting session proposals for the 2023 ACMG Annual Clinical Genetics Meeting in Salt Lake City. The deadline is April 29, 2022. Go to bit.ly/3jo5zYl. Questions? Contact education@acmg.net
GIF
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Our paper on best practices for clinical genome interpretation and reporting is finally out! So honored to have led this fantastic @medical_genome initiative effort.
Medical Genome Initiative@medical_genome
Check out our latest paper in #npjGenomicMedicine where we present recommendations for the interpretation and reporting of clinical genome sequencing! Be sure to check out the Supplement for a wealth of @medical_genome compiled resources. rdcu.be/cKWov
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Very proud of this manuscript and grateful for the @medical_genome network of colleagues generously sharing their expertise! @HeidiRehm @CAustintse @sari_barn @dmlaut
Medical Genome Initiative@medical_genome
Check out our latest paper in #npjGenomicMedicine where we present recommendations for the interpretation and reporting of clinical genome sequencing! Be sure to check out the Supplement for a wealth of @medical_genome compiled resources. rdcu.be/cKWov
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Hutton Kearney retuiteado
Hutton Kearney retuiteado
Out now, ‘A Joint NCBI & EMBL-EBI Transcript Set for Clinical Genomics and Research’, a collaboration btw @ensembl/@gencodegenes & @ncbi to produce a genome-wide transcript set (MANE Select) that has one well-supported transcript per protein-coding locus. nature.com/articles/s4158…
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FISH testing for MYC is part of routine clinical evaluation for high grade B-cell lymphomas. We showed a high false negative rate for the MYC break apart FISH probe (4%) or the MYC/IGH probe (22%). Thus, FISH will not detect all MYC rearrangements in B-cell lymphomas.
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