This dataset describes the bioinformatics evaluation of calcium sensing receptor variants that have been shown by functional studies to be inactivating (Table 1) or to behave as wild type (Table 2). T
The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic s
Abstract Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face diffi
Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Rare Genomes Project is envisioned to further the implementation of genomic medicine into the Brazilian public healthcare s
A total of 213 PTEN missense variants comprising of 147 VUS, 54 ClinVar Pathogenic and 12 Benign variants were slected for classification utilizing the MD simulations study.
