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 …
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
g: Profiler—interoperable web service for functional enrichment analysis and gene identifier mapping (2023 update)
Abstract g: Profiler is a reliable and up-to-date functional enrichment analysis tool that
supports various evidence types, identifier types and organisms. The toolset integrates many …
supports various evidence types, identifier types and organisms. The toolset integrates many …
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
Organ aging signatures in the plasma proteome track health and disease
Animal studies show aging varies between individuals as well as between organs within an
individual,,–, but whether this is true in humans and its effect on age-related diseases is …
individual,,–, but whether this is true in humans and its effect on age-related diseases is …
[HTML][HTML] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …
The human disease ontology 2022 update
LM Schriml, JB Munro, M Schor, D Olley… - Nucleic acids …, 2022 - academic.oup.com
Abstract The Human Disease Ontology (DO)(www. disease-ontology. org) database, has
significantly expanded the disease content and enhanced our userbase and website since …
significantly expanded the disease content and enhanced our userbase and website since …
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 …
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
Background Stratification of patients with post-acute sequelae of SARS-CoV-2 infection
(PASC, or long COVID) would allow precision clinical management strategies. However …
(PASC, or long COVID) would allow precision clinical management strategies. However …
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 …