Anastasios Papakonstantinou
A5002570985- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Alcohol Consumption and Health Effects
- Genomics and Phylogenetic Studies
- Substance Abuse Treatment and Outcomes
- Bioinformatics and Genomic Networks
- Neurological disorders and treatments
- dental development and anomalies
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Bone and Dental Protein Studies
- Genetic factors in colorectal cancer
- Health disparities and outcomes
- Genetic Syndromes and Imprinting
- Connexins and lens biology
- Neurogenetic and Muscular Disorders Research
- Pancreatic and Hepatic Oncology Research
- Eicosanoids and Hypertension Pharmacology
Centro Nacional de Análisis Genómico
2019-2022
Centre for Genomic Regulation
2020-2022
Universitat Pompeu Fabra
2021
Institute of Science and Technology
2021
National Public Health Organization
2006
Abstract For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, patient representatives 51 sites from 15 countries. built upon core group four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies....
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because methods used missed cause in known gene, novel causative gene could not be identified and/or confirmed. To address these challenges, RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates collation, discovery, sharing, and analysis standardized genome-phenome...
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation future reinterpretation. The Undiagnosed Rare Disease Program Catalonia project collated previously inconclusive good quality (panels, exomes, genomes) standardized phenotypic profiles from 323 families (543 individuals) with...
Abstract Background Exome and genome sequencing are the predominant techniques in diagnosis research of genetic disorders. Sufficient, uniform reproducible/consistent sequence coverage is a main determinant for sensitivity to detect single-nucleotide (SNVs) copy number variants (CNVs). Here we compared ability obtain comprehensive exome recent capture kits techniques. Results We three different widely used enrichment (Agilent SureSelect Human All Exon V5, Agilent V7 Twist Bioscience) as well...
Phenotype-based filtering and prioritization contribute to the interpretation of genetic variants detected in exome sequencing. However, it is currently unclear how extensive this phenotypic annotation should be. In study, we compare methods for incorporating phenotype into process assess extent which aids correct variant. Using a cohort 29 patients with congenital myasthenic syndromes causative known or newly discovered disease genes, data Human Phenotype Ontology (HPO)-coded profiles, show...
Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical studies. More than 2400 exome sequencing data sets were analyzed and screened autozygosity on the basis detection >1 Mbp runs homozygosity (ROHs). A model was built to predict if individual likely be consanguineous offspring (accuracy, 98%), probability consanguinity ranges established according total ROH size. Application resulted in reclassification status 12% patients. The...
Abstract Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard phenotypic data, this has impeded sharing computational analysis. Here, we introduce Global Alliance Genomics Health (GA4GH) Phenopacket schema, which supports exchange computable longitudinal case-level diagnosis research all types disease including Mendelian complex genetic diseases, cancer, infectious diseases....
by clinical sites of to the RD-Connect Genome-Phenome Analysis Platform.Genomic data were processed and filtered as detailed [5].The Solve-RD SNV/Indel working group reported back 74,456 variants in Members Solve-RD-DITF-RND The Consortium are listed below Acknowledgements.
Aim: To analyze socio-demographic correlates of alcohol drinking among Greek healthy adults.Methods: Data related to consumption patterns 5,500 adult individuals, coming from 26 Hellenic provinces were abstracted SESy-Europe database within a framework the nationwide anticancer-trial PACMeR 02 study. Statistic: χ2 test and logistic regression analyses used.Results: 42.5% males 82.5% females did not consume alcoholic drinks. Among users, daily assumption was 28.50 g/day for men 9.85 women....