@pnrobins
 Connecticut, USA
Joined April 2009
  • Tweets424
  • Following111
  • Followers192
30Media
Dear everybody, I have followed the developments in Twitter over the last year with no small disappointment, and have decided that I do not want to continue to be part of a platform that is doing so little to prevent racist and fascist messages from being distributed. Goodbye
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Peter Robinson retweeted
HPO@hp_ontology16 Nov 2023
HPO goes international in our new publication «The Human Phenotype Ontology in 2024: phenotypes around the world» academic.oup.com/nar/advance…

The Human Phenotype Ontology in 2024: phenotypes around the world

Abstract. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease,

academic.oup.com
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With our food systems on the verge of collapse, it’s the plutocrats v life on Earth | George Monbiot theguardian.com/commentisfre…

With our food systems on the verge of collapse, it’s the plutocrats v life on Earth | George Monbiot

Climate breakdown and crop losses threaten our survival, but the ultra-rich find ever more creative ways to maintain the status quo, says Guardian columnist George Monbiot

theguardian.com
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medrxiv.org/content/10.1101/… @hp_ontology @MonarchInit

On the limitations of large language models in clinical diagnosis

Background The potential of large language models (LLM) such as GPT to support complex tasks such as differential diagnosis has been a subject of debate, with some ascribing near sentient abilities...

medrxiv.org
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This is the best video to introduce a computational biology course. There will never be a better one xitter.cf/fan_of_gpu/status/1673…
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Proud to be a part of this effort!
Dr. Sebastian Köhler@drseb_6 Apr 2023
Big announcement today. @hp_ontology goes multi-lingual: groups.io/g/human-phenotype-… Thanks to all translators, @NicoMatentzoglu, and @pnrobins @MonarchInit
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Alternative splicing is coupled to gene expression in a subset of variably expressed genes biorxiv.org/content/10.1101/…

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative splicing depends on the regulation of gene expression is poorly understood. We...

biorxiv.org
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exactly!
Star Trek
@StarTrek11 Jun 2023
"Damn it, I am a doctor!" 💫 #StarTrek startrek.com/news/best-of-bo…

The Best of Dr. Leonard 'Bones' McCoy

'I told you people, I don't need a doctor. Damn it, I am a doctor.'

startrek.com
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I am deeply honored and delighted to be awarded a Humboldt Professorship for AI: humboldt-foundation.de/en/ex…

Peter N. Robinson - Humboldt Professorship for AI 2024

Peter N. Robinson is a pioneer in the computer-assisted genome and phenotype analysis of genetic diseases. His major work has been the development of the Human Phenotype Ontology, which is now a...

humboldt-foundation.de
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wish I was as cool as this cat...
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Cool work from the Hunter lab!
Larry Hunter@ProfLHunter2 Jun 2023
Our ignorance-base paper is out! Knowledge is important, but the biomedical literature is also full of open questions, controversies, and other statements regarding scientific ignorance. Text-mining for them has interesting applications... sciencedirect.com/science/ar…
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We did it!! 💪🥳 This work was started during my PhD @CUAnschutz and completed during my Postdoctoral Fellowship @ColumbiaDBMI. There are so many important people to thank for making this work possible (please read all replies) 👇👇👇
npj Digital Medicine
@npjDigitalMed19 May 2023
Advancing EHR-based deep phenotyping... An algorithm for mapping clinical Observational Medical Outcomes Partnership (OMOP) vocabularies to @OBOFoundry ontologies to help systematically identify undiagnosed patients who might benefit from genetic testing. nature.com/articles/s41746-0…
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Che bella la vita
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We are excited to welcome Peter Robinson (@pnrobins) from the @jacksonlab to #GHGAtalks today! He is talking about "The Phenopacket schema: an open standard for sharing disease and phenotype information" !
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Big announcement today. @hp_ontology goes multi-lingual: groups.io/g/human-phenotype-… Thanks to all translators, @NicoMatentzoglu, and @pnrobins @MonarchInit
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Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies pubmed.ncbi.nlm.nih.gov/3696…

Individualised human phenotype ontology gene panels improve clinical whole exome and genome...

We have demonstrated a viable approach for incorporating standardised phenotype information into clinical genomic analyses, which may enable more efficient analysis.

pubmed.ncbi.nlm.nih.gov
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Looking forward to my first Irish course! #FLIrish101
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Peter Robinson retweeted
TrekMovie.com@TrekMovie17 Mar 2023
Happy Sir...umm.. St. Patrick's Day! #StPatricksDay
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An expectation-maximization framework for comprehensive prediction of isoform-specific functions pubmed.ncbi.nlm.nih.gov/3692…

An expectation-maximization framework for comprehensive prediction of isoform-specific functions -...

Source code, documentation, and resource files are freely available under a GNU3 license at https://github.com/TheJacksonLaboratory/isopretEM and https://zenodo.org/record/7594321.

pubmed.ncbi.nlm.nih.gov
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Peter Robinson retweeted
Deepak Unni@deepakunni34 Mar 2023
Super happy and excited to see the GHGA Metadata Catalog up and running 🎉 Congratulations to the @GHGA_DE team on achieving this milestone! 🚀 – at Bottmingen, Schweiz
The German Human Genome-Phenome Archive@GHGA_DE3 Mar 2023
❗️We launched the GHGA Metadata Catalog! ❗️ An important step towards our goal of developing a national infrastructure to enable the FAIR sharing of genetic and other human omics data for secondary research! Find out more here: ghga.de/news/detail/launchin…
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