7 publication(s) trouvée(s)
Article scientifique
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native …
Article scientifique
Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression
Abstract Human immunodeficiency virus (HIV) infection remains a significant public health burden globally. The role of viral co-infection in the …
Article scientifique
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs …
Article scientifique
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort
The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine …
Article scientifique
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping
Abstract Genetic variation in genes encoding cytochrome P450 enzymes has important clinical implications for drug metabolism. Bioinformatics algorithms for genotyping …
Article scientifique
Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal
Abstract BRCA1 and BRCA2 are the most incriminated genes in inherited breast/ovarian cancers. Several pathogenic variants of these genes conferring …
Article scientifique
Chromatin marks shape mutation landscape at early stage of cancer progression
Somatic mutation rates in cancer differ across the genome in a cancer cell-type specific manner. Although key factors that contribute …