Louise C. Daugherty
A5024088874- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genetic factors in colorectal cancer
- Immunodeficiency and Autoimmune Disorders
- Genomic variations and chromosomal abnormalities
- Pulmonary Hypertension Research and Treatments
- Bioinformatics and Genomic Networks
- Genetics and Neurodevelopmental Disorders
- Platelet Disorders and Treatments
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- Biomedical Text Mining and Ontologies
- RNA regulation and disease
- Cancer Genomics and Diagnostics
- Retinal Development and Disorders
- Mitochondrial Function and Pathology
- CRISPR and Genetic Engineering
- Immune Cell Function and Interaction
- interferon and immune responses
- Enzyme Structure and Function
- Machine Learning in Bioinformatics
- RNA modifications and cancer
- Telomeres, Telomerase, and Senescence
- Cystic Fibrosis Research Advances
- RNA Research and Splicing
Genomics England
2019-2025
University of Cambridge
2016-2023
Cambridge University Hospitals NHS Foundation Trust
2016-2023
Queen Mary University of London
2020-2022
Klinikum rechts der Isar
2022
University of Tübingen
2022
National Institute for Health Research
2016-2021
William Harvey Research Institute
2021
University of Birmingham
2021
Jackson Laboratory
2021
The InterPro database (http://www.ebi.ac.uk/interpro/) integrates together predictive models or 'signatures' representing protein domains, families and functional sites from multiple, diverse source databases: Gene3D, PANTHER, Pfam, PIRSF, PRINTS, ProDom, PROSITE, SMART, SUPERFAMILY TIGRFAMs. Integration is performed manually approximately half of the total 58,000 signatures available in databases belong to an entry. Recently, we have started also display remaining un-integrated via our web...
Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank INTERVAL studies, testing 29.5 million genetic for 36 red cell, white platelet properties 173,480 European-ancestry participants. This effort yielded hundreds low frequency (<5%) rare (<1%) strong impact on blood cell phenotypes. Our data highlight general allelic architecture complex...
The InterPro database (http://www.ebi.ac.uk/interpro/) is a freely available resource that can be used to classify sequences into protein families and predict the presence of important domains sites. Central are predictive models, known as signatures, from range different family databases have biological focuses use methodological approaches domains. integrates these capitalizing on respective strengths individual databases, produce powerful classification resource. Here, we report status it...
InterPro (http://www.ebi.ac.uk/interpro/) is a database that integrates diverse information about protein families, domains and functional sites, makes it freely available to the public via Web-based interfaces services. Central are diagnostic models, known as signatures, against which sequences can be searched determine their potential function. has utility in large-scale analysis of whole genomes meta-genomes, well characterizing individual sequences. Herein we give an overview new...
InterPro is an integrated resource for protein families, domains and functional sites, which integrates the following signature databases: PROSITE, PRINTS, ProDom, Pfam, SMART, TIGRFAMs, PIRSF, SUPERFAMILY, Gene3D PANTHER. The latter two new member databases have been since last publication in this journal. There several developments InterPro, including additional reading field, database links, extensions to web interface match XML files. has always provided matches UniProtKB proteins on...
Pulmonary arterial hypertension (PAH) is a rare disorder with poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms PAH. To identify missing heritability we perform whole-genome sequencing in 1038 PAH index cases and 6385 PAH-negative control subjects. Case-control analyses reveal significant overrepresentation variants ATP13A3, AQP1 SOX17, provide...
The U.K. 100,000 Genomes Project is in the process of investigating role genome sequencing patients with undiagnosed rare diseases after usual care and alignment this research health implementation National Health Service. Other parts project focus on cancer infection.
The HUGO Gene Nomenclature Committee situated at the European Bioinformatics Institute assigns unique symbols and names to human genes. Since 2011, data within our database has expanded largely owing an increase in naming pseudogenes non-coding RNA genes, we now have >33 500 approved symbols. Our gene families groups also increased nearly 500, with ∼45% of entries associated least one family or group. We redesigned website http://www.genenames.org creating a constant look feel across site...
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing data from nearly 10 000 individuals recruited within the Genomics England project to investigate normal pathogenic variation of RFC1 repeat. We identified three novel motifs, AGGGC (n = 6 five families), AAGGC 2 one family) AGAGG 1), associated with CANVAS...
Rationale: Recently, rare heterozygous mutations in GDF2 were identified patients with pulmonary arterial hypertension (PAH). encodes the circulating BMP (bone morphogenetic protein) type 9, which is a ligand for BMP2 receptor.Objectives: Here we determined functional impact of and characterized plasma BMP9 BMP10 levels idiopathic PAH.Methods: Missense mutant proteins expressed vitro on protein processing secretion, endothelial signaling, activity was assessed. Plasma assayed PAH variants...
Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down maternal line, most recently in three families where several individuals harbored a 'heteroplasmic haplotype' consistent with biparental transmission. Here we report similar genetic signature 7 11,035 trios, allelic fractions 5-25%, implying inheritance mtDNA 0.06% offspring. However, analysing nuclear whole genome sequence, observe likely large rare or unique...
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures how essential gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice the International Mouse Phenotyping Consortium essentiality carried out human cell lines. We propose cross-species classification across Full Spectrum Intolerance Loss-of-function (FUSIL)...
Alport syndrome is the commonest inherited kidney disease and nearly half pathogenic variants in COL4A3-COL4A5 genes that cause result Gly substitutions. This study examined molecular characteristics of substitutions determine severity clinical features. Pathogenic COL4A5 affecting Leiden Open Variation Database males with X-linked were correlated age at failure (n = 157) hearing loss diagnosis 80). Heterozygous COL4A3 COL4A4 304) autosomal dominant risk haematuria UK 100,000 Genomes...