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An open source knowledge graph ecosystem for the life sciences.

Tiffany J CallahanIgnacio J TripodiAdrianne L StefanskiLuca CappellettiSanya B TanejaJordan M WyrwaElena CasiraghiNicolas A MatentzogluJustin ReeseJonathan C SilversteinCharles Tapley HoytRichard D BoyceScott A MalecDeepak R UnniMarcin P JoachimiakPeter Nick RobinsonChristopher J MungallEmanuele CavalleriTommaso FontanaGiorgio ValentiniMarco MesitiLucas A GillenwaterBrook SantangeloNicole A VasilevskyHoehndorf RobertTellen D BennettPatrick B RyanGeorge HripcsakMichael G KahnMichael BadaWilliam A BaumgartnerLawrence E Hunter
Published in: Scientific data (2024)
Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenges. Knowledge graphs (KGs) are used to model complex phenomena, and methods exist to construct them automatically. However, tackling complex biomedical integration problems requires flexibility in the way knowledge is modeled. Moreover, existing KG construction methods provide robust tooling at the cost of fixed or limited choices among knowledge representation models. PheKnowLator (Phenotype Knowledge Translator) is a semantic ecosystem for automating the FAIR (Findable, Accessible, Interoperable, and Reusable) construction of ontologically grounded KGs with fully customizable knowledge representation. The ecosystem includes KG construction resources (e.g., data preparation APIs), analysis tools (e.g., SPARQL endpoint resources and abstraction algorithms), and benchmarks (e.g., prebuilt KGs). We evaluated the ecosystem by systematically comparing it to existing open-source KG construction methods and by analyzing its computational performance when used to construct 12 different large-scale KGs. With flexible knowledge representation, PheKnowLator enables fully customizable KGs without compromising performance or usability.
Keyphrases
  • healthcare
  • climate change
  • electronic health record
  • machine learning
  • big data
  • human health
  • risk assessment
  • single cell
  • mental health
  • deep learning
  • data analysis
  • solid phase extraction