@pilarcacheiro

Computational biologist. From model organisms to human disease. Human genetics. Statistics. R. Essential genes keep me busy these days.

Joined June 2016
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538Media
⏳ Final call for abstracts! The extended deadline to submit your abstract for #eshg2026 is tomorrow (no exceptions possible). Don’t miss the opportunity to showcase your research and be part of the programme. Submit now! Details on the ESHG website: 2026.eshg.org/abstracts/
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Cada vez más obvio quienes sostienen el mundo. O lo salvan, como diría Borges. No son siempre fáciles de reconocer al primer vistazo. Mi casa huele a naranja, hay pato en el horno. Estoy muy cansada. Y contenta. Muchas cosas de las que merecen mucho la pena han pasado hoy.
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Neil Renic@NC_Renic8 Nov 2024
September: “I’m on top of things, looking forward to a quiet end to the year” November:
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David Steel@SteelySeabirder9 Nov 2024
The seal nurseries on the Isle of May are busy but not as busy as they should be. The blog has the story; isleofmaynnr.wordpress.com/
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BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements medrxiv.org/content/10.1101/…

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facili...

Genome-wide assessment of genetic variation is becoming routine in human genetics, but functional interpretation of non-coding variants both in common and rare diseases remains extremely challenging....

medrxiv.org
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Susie Dent
@susie_dent6 Nov 2024
Word of the day is ‘recrudescence’ (17th century): the return of something terrible after a time of reprieve.
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Shocking news : no Pandoro at my local Tesco yet, only Panettone.
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Isn't it all about asking the right questions (in life, in science) and caring about the answers?
Adam Grant
@AdamMGrant4 Nov 2024
When parents only ask about grades and goals, kids infer that achievement comes first. To signal that we value their well-being and character, we should also ask about happiness and kindness: -What made you feel joyful? Sad or worried? -Who did you help? Who helped you?
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Mondays.. 😅
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The Smiths always, but today's mood seems particularly fitting. m.youtube.com/watch?v=t0co3C…

The Smiths - Please, Please, Please Let Me Get What I Want (Official...

Official lyric video for Please, Please, Please Let Me Get What I W...

youtube.com
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Pilar Cacheiro retweeted
#WOMENSART
@womensart12 Nov 2024
Marta Zamarska, emerging Polish painter known for her atmospheric work #WomensArt
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literland
@literlandweb12 Nov 2024
"Una de las misteriosas leyes de la vida es que descubrimos siempre tarde sus auténticos y más esenciales valores". Stefan Zweig
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Believe in yourself like visitors who believe they can pet a bison.
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Rinse and repeat.
Neil Renic@NC_Renic30 Oct 2024
7:30: Declare big day of writing 8:00-17:00: Fail to write 17:30: Declare big day of writing tomorrow
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Someone who knows me well just sent me this.
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Megan Gozzard@PhDood1es27 Oct 2024
What geneticists fear the most: The Cambridge Plot.
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There is one way to overcome the inevitable despair that comes with getting dark at 5 pm: chestnuts.
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Is your Saturday going ok or has your dark laundry been ruined by a hidden piece of tissue paper?
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GIM's Senior Technical Editor Peter Freeman collaborated with other experts on "Standardizing variant naming in literature with VariantValidator to increase diagnostic rates", now available in Nature Genetics bit.ly/3BF83On
Screenshot of article header that reads: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton & Raymond Dalgleish Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.

ALT Screenshot of article header that reads: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton & Raymond Dalgleish Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.

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