Simone Rubinacci

Nov 26, 2024 | biorxiv.org | Robert E. Handsaker |Nolan Kamitaki |Ronen E. Mukamel |Simone Rubinacci

AbstractExpansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somatically unstable.

Jun 29, 2023 | nature.com | Robin Hofmeister |Diogo Ribeiro |Simone Rubinacci

AbstractPhasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB) whole-genome and whole-exome sequencing data. We demonstrate that SHAPEIT5 phases rare variants with low switch error rates of below 5% for variants present in just 1 sample out of 100,000.

Jun 29, 2023 | nature.com | Simone Rubinacci |Robin Hofmeister

This study relies on analyses of genetic data from the UKB cohort, which was collected with informed consent obtained from all participants. Data for this study were obtained under the UKB applications licence number 66995 and are available to registered researchers through the UKB data-access protocol. Additional data used in this study are all publicly available.