HPO
@hp_ontology
Followers
1K
Following
535
Media
2
Statuses
398
Human Phenotype Ontology ; the free and open standard for deep phenotyping in precision medicine, genomics, and rare diseases.
Berlin, Germany
Joined June 2015
RT @AmaralLab: In this version, we. š Updated the version of PubMed used @NLM_NIH .š„ Updated the version of the Human Phenotype Ontologyā¦.
0
1
0
RT @Prof_TGSchulze: The third Global #Bipolar Cohort/Human #Phenotype #Ontology @hp_ontology workshop is on. Working towards a better, deepā¦.
0
6
0
RT @Prof_TGSchulze: No, it wasn't a #SaturdayNightFever reenactment but our #EPA2024 @Euro_Psychiatry Core Symposium on the #GlobalBipolarā¦.
0
4
0
RT @Solve_RD: š Publication alert: @Solve_RD's phenotypic similarity-based approach for solving undiagnosed #rarediseases, with 42% of diagā¦.
0
7
0
HPO goes international in our new publication Ā«The Human Phenotype Ontology in 2024: phenotypes around the worldĀ».
academic.oup.com
Abstract. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease,
1
13
29
RT @ryanlayer: Excited about @michael_boulder's 1st 1st-author paper Mixed STRING & @hp_ontology. Used time-seriesā¦.
biorxiv.org
Rare diseases affect 1-in-10 people in the United States and despite increased genetic testing, up to half never receive a diagnosis. Even when using advanced genome sequencing platforms to discover...
0
4
0
RT @drseb_: Big announcement today. @hp_ontology goes multi-lingual: Thanks to all translators, @NicoMatentzoglu,ā¦.
0
10
0
RT @Solve_RD: @ConnectRD @LeslieMatalonga Donāt miss the opportunity to get hands-on advice on how to analyse your #RareDisease cases via tā¦.
0
4
0
RT @IngoHelbig: Enriching representation learning using 53 million patient notes through human phenotype ontology embedding . ā¦@hp_ontologyā¦.
0
9
0
RT @KrawitzPeter: @hp_ontology: triangular face, midface retrusion, webbed neck, down-slanted palpebral fissures, hypertelorism, ptosis, stā¦.
0
2
0
RT @pnrobins: Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology Embedding .
biorxiv.org
The Human Phenotype Ontology (HPO) is a dictionary of more than 15,000 clinical phenotypic terms with defined semantic relationships, developed to standardize their representation for phenotypic...
0
4
0
RT @drseb_: Wow. Somebody using phenogramviz. Nice. Original paper was this:
jmg.bmj.com
Background Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions...
0
1
0
RT @pnrobins: @hp_ontology @MonarchInit Phenograms to analyze structural variants in a neurodevelopmental disorder
pubmed.ncbi.nlm.nih.gov
We describe a 3.5-year-old Iranian female child and her affected 10-month-old brother with a maternally inherited derivative chromosome 9 [der(9)]. The postnatally detected rearrangement was finely...
0
2
0
RT @ontowonka: @MonarchInit @hp_ontology and #deepPhenotyping in our #exomiser tool improves #rareDisease #diagnostics! @NIH_ORIP @genome_gā¦.
0
3
0
The @phenomizer algorithm by @drseb_ in 2009 has been adapted and applied to identify generalisable clusters on persons with #LongCovid.
@hp_ontology @MonarchInit .The Phenomizer algorithm (Sebastian Koehler et al 2009) adapted and applied to identify generalizable clusters on persons with long COVID .
1
3
4
RT @pnrobins: @hp_ontology @MonarchInit .Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticistā¦.
pubmed.ncbi.nlm.nih.gov
Advances in genomic technology including the development of next-generation sequencing (NGS) have enabled the identification of thousands of variations at a time, allowing the discovery of novel...
0
6
0
RT @drseb_: If you have a github account and are a fan of open standards for describing human symptoms and clinical descriptions, please āsā¦.
0
3
0
RT @GRAPElib: You can now use š to compute @hp_ontology pairwise @psresnik scores, ~270M, on your notebook in about 1 second ā” https://t.coā¦.
0
2
0
RT @NicoMatentzoglu: In Tuesday's @MonarchInit Semantic Engineering Training @N_Vasilevsky and I tried to hammer out one message: how attrā¦.
0
7
0