PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Several molecular and phenotypic algorithms exist that establish genotype-phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore's ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype-phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.PhenoScore is an open-source machine-learning tool that combines facial image recognition with Human Phenotype Ontology for genetic syndrome identification without genomic data, with applications to subgroup analysis and variants of unknown significance classification.Genetics of disease, diagnosis and treatmen

The 6 month interim analysis of a randomized controlled trial assessing the quality of life in patients with breast cancer related lymphedema undergoing lymphaticovenous anastomosis vs. conservative therapy

Abstract Breast cancer related lymphedema (BCRL) is a chronic condition with a detrimental impact on psychosocial and physical well-being. Lymphaticovenous anastomosis has shown promising results in alleviating physical symptoms and increasing quality of life in patients with BCRL. The aim of the study is to evaluate the effect on health related quality of life (HrQol) after LVA surgery versus conservative treatment in patients with BCRL. The study is a prospective, multicenter randomized controlled trial. Adult women with unilateral BCRL, with early stage lymphedema and viable lymphatic vessels were included. The primary outcome measure was HrQol measured by the lymphedema functioning disability and health (Lymph-ICF) questionnaire. The secondary outcomes were volume difference measured by the water displacement method; the Upper Extremity Lymphedema (UEL) index; and daily use of the compression garments after 3 and 6 months. For this interim analysis 46 patients per group were included. There was a significant improvement in the domains in physical and mental function in the Lymph-ICF questionnaire in the LVA group after 6 months, (− 16.46 ± 18.5, p  0.05, CDT-group; − 2.65 ± 18.2, p < 0.05). Furthermore, there was no significant volume reduction in both groups (LVA-group: 20.04 ± 196.40, p = 0.497, CDT: 33.98 ± 189.87, p = 0.236). In the LVA group, 41% partially of completely stopped wearing the compression garments after six months whereas in the CDT group 0% discontinued to use of compression garments. LVA resulted in improvement of the domains physical and mental function of the Lymph-ICF. Limb volume did not significantly improve after 6 months. However, around 42% could completely or partially stopped with the use of compression garments in the LVA group. The current results are promising, however longer follow up is required to assess long term effect of LVA for secondary lymphedema. Clinical Trial Registration: NCT02790021 registered on 03/06/201

Human disease genes website series: An international, open and dynamic library for up-to-date clinical information

Since the introduction of next-generation sequencing, an increasing number of disorders have been discovered to have genetic etiology. To address diverse clinical questions and coordinate research activities that arise with the identification of these rare disorders, we developed the Human Disease Genes website series (HDG website series): an international digital library that records detailed information on the clinical phenotype of novel genetic variants in the human genome (https://humandiseasegenes.info/). Each gene website is moderated by a dedicated team of clinicians and researchers, focused on specific genes, and provides up-to-date—including unpublished—clinical information. The HDG website series is expanding rapidly with 424 genes currently adopted by 325 moderators from across the globe. On average, a gene website has detailed phenotypic information of 14.4 patients. There are multiple examples of added value, one being the ARID1B gene website, which was recently utilized in research to collect clinical information of 81 new patients. Additionally, several gene websites have more data available than currently published in the literature. In conclusion, the HDG website series provides an easily accessible, open and up-to-date clinical data resource for patients with pathogenic variants of individual genes. This is a valuable resource not only for clinicians dealing with rare genetic disorders such as developmental delay and autism, but other professionals working in diagnostics and basic research. Since the HDG website series is a dynamic platform, its data also include the phenotype of yet unpublished patients curated by professionals providing higher quality clinical detail to improve management of these rare disorders

Evaluation des caractéristiques et de l'intérêt agronomique de préparations simples de plantes, pour des productions fruitières, légumières et viticoles économes en intrants

International audienc