The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans… - Human genetics, 2020 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …
collection of published germline mutations in nuclear genes that are thought to underlie, or …
The status of the human gene catalogue
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …
was published in 2001. In the years since, much progress has been made in identifying …
The STRING database in 2023: protein–protein association networks and functional enrichment analyses for any sequenced genome of interest
D Szklarczyk, R Kirsch, M Koutrouli… - Nucleic acids …, 2023 - academic.oup.com
Much of the complexity within cells arises from functional and regulatory interactions among
proteins. The core of these interactions is increasingly known, but novel interactions …
proteins. The core of these interactions is increasingly known, but novel interactions …
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Y Chen, T Lu, U Pettersson-Kymmer, ID Stewart… - Nature …, 2023 - nature.com
Metabolic processes can influence disease risk and provide therapeutic targets. By
conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite …
conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite …
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 …
FlyBase: a guided tour of highlighted features
LS Gramates, J Agapite, H Attrill, BR Calvi… - Genetics, 2022 - academic.oup.com
FlyBase provides a centralized resource for the genetic and genomic data of Drosophila
melanogaster. As FlyBase enters our fourth decade of service to the research community …
melanogaster. As FlyBase enters our fourth decade of service to the research community …
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 …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
FlyBase: updates to the Drosophila melanogaster knowledge base
A Larkin, SJ Marygold, G Antonazzo… - Nucleic acids …, 2021 - academic.oup.com
FlyBase (flybase. org) is an essential online database for researchers using Drosophila
melanogaster as a model organism, facilitating access to a diverse array of information that …
melanogaster as a model organism, facilitating access to a diverse array of information that …