Publications by authors named "G I Demidov"
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFCourses of SARS-CoV-2 infections are highly variable, ranging from asymptomatic to lethal COVID-19. Though research has shown that host genetic factors contribute to this variability, cohort-based joint analyses of variants from the entire allelic spectrum in individuals with confirmed SARS-CoV-2 infections are still lacking. Here, we present the results of whole genome sequencing in 1,220 mainly vaccine-naïve individuals with confirmed SARS-CoV-2 infection, including 827 hospitalized COVID-19 cases.
View Article and Find Full Text PDFArticle Synopsis
- * By employing three CNV calling algorithms to enhance detection, we successfully provided molecular diagnoses to 51 families, with ClinCNV showing the highest effectiveness among the algorithms used.
- * Additionally, we found partially explanatory pathogenic CNVs in 34 other individuals, highlighting the importance and benefits of revisiting past exome sequencing data in search of CNVs.