Characterizing long COVID: deep phenotype of a complex condition
Background Numerous publications describe the clinical manifestations of post-acute
sequelae of SARS-CoV-2 (PASC or" long COVID"), but they are difficult to integrate because …
sequelae of SARS-CoV-2 (PASC or" long COVID"), but they are difficult to integrate because …
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science
Within clinical, biomedical, and translational science, an increasing number of projects are
adopting graphs for knowledge representation. Graph‐based data models elucidate the …
adopting graphs for knowledge representation. Graph‐based data models elucidate the …
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
Abstract The International Mouse Phenotyping Consortium (IMPC; https://www.
mousephenotype. org/) web portal makes available curated, integrated and analysed …
mousephenotype. org/) web portal makes available curated, integrated and analysed …
Building a knowledge graph to enable precision medicine
Developing personalized diagnostic strategies and targeted treatments requires a deep
understanding of disease biology and the ability to dissect the relationship between …
understanding of disease biology and the ability to dissect the relationship between …
Genenames. org: the HGNC resources in 2023
RL Seal, B Braschi, K Gray, TEM Jones… - Nucleic Acids …, 2023 - academic.oup.com
Abstract The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and
names to human genes. The HGNC database (www. genenames. org) currently contains …
names to human genes. The HGNC database (www. genenames. org) currently contains …
Open Targets Platform: supporting systematic drug–target identification and prioritisation
Abstract The Open Targets Platform (https://www. targetvalidation. org/) provides users with
a queryable knowledgebase and user interface to aid systematic target identification and …
a queryable knowledgebase and user interface to aid systematic target identification and …
Genenames. org: the HGNC and VGNC resources in 2021
Abstract The HUGO Gene Nomenclature Committee (HGNC) based at EMBL's European
Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes …
Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes …
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …
biomedical advances by enabling the responsible sharing of clinical and genomic data …
CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
The human phenotype ontology in 2021
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …
to provide a comprehensive logical standard to describe and computationally analyze …