The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation
We present the Polygenic Score (PGS) Catalog (https://www. PGSCatalog. org), an open
resource of published scores (including variants, alleles and weights) and consistently …
resource of published scores (including variants, alleles and weights) and consistently …
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
A Buniello, JAL MacArthur, M Cerezo… - Nucleic acids …, 2019 - academic.oup.com
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide
association studies enabling investigations to identify causal variants, understand disease …
association studies enabling investigations to identify causal variants, understand disease …
The EMBL-EBI search and sequence analysis tools APIs in 2019
The EMBL-EBI provides free access to popular bioinformatics sequence analysis
applications as well as to a full-featured text search engine with powerful cross-referencing …
applications as well as to a full-featured text search engine with powerful cross-referencing …
Structured prompt interrogation and recursive extraction of semantics (SPIRES): A method for populating knowledge bases using zero-shot learning
Motivation Creating knowledge bases and ontologies is a time consuming task that relies on
manual curation. AI/NLP approaches can assist expert curators in populating these …
manual curation. AI/NLP approaches can assist expert curators in populating these …
Assessing GPT-4 for cell type annotation in single-cell RNA-seq analysis
Here we demonstrate that the large language model GPT-4 can accurately annotate cell
types using marker gene information in single-cell RNA sequencing analysis. When …
types using marker gene information in single-cell RNA sequencing analysis. When …
OECD harmonised template 201: Structuring and reporting mechanistic information to foster the integration of new approach methodologies for hazard and risk …
E Carnesecchi, I Langezaal, P Browne… - Regulatory Toxicology …, 2023 - Elsevier
Abstract In the European Union, the Chemicals Strategy for Sustainability (CSS) highlights
the need to enhance the identification and assessment of substances of concern while …
the need to enhance the identification and assessment of substances of concern while …
MirDIP 5.2: tissue context annotation and novel microRNA curation
AC Hauschild, C Pastrello, GKA Ekaputeri… - Nucleic Acids …, 2023 - academic.oup.com
MirDIP is a well-established database that aggregates microRNA-gene human interactions
from multiple databases to increase coverage, reduce bias, and improve usability by …
from multiple databases to increase coverage, reduce bias, and improve usability by …
Delineating mouse β-cell identity during lifetime and in diabetes with a single cell atlas
Although multiple pancreatic islet single-cell RNA-sequencing (scRNA-seq) datasets have
been generated, a consensus on pancreatic cell states in development, homeostasis and …
been generated, a consensus on pancreatic cell states in development, homeostasis and …
Multilingual translation for zero-shot biomedical classification using BioTranslator
Existing annotation paradigms rely on controlled vocabularies, where each data instance is
classified into one term from a predefined set of controlled vocabularies. This paradigm …
classified into one term from a predefined set of controlled vocabularies. This paradigm …
A survey of genome-wide association studies, polygenic scores and UK Biobank highlights resources for autoimmune disease genetics
Autoimmune diseases share a general mechanism of auto-antigens harming tissues. Still.
they are phenotypically diverse, with genetic as well as environmental factors contributing to …
they are phenotypically diverse, with genetic as well as environmental factors contributing to …