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 Присоединился Mart 2008
346 Подписки263 Подписчики
@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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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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Days until password expiration: 9
Days until I will change my password: also 9
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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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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 ретвитнул
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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