F. Kumara Mastrorosa @fkma.bsky.social · 09/07/2026Our work on Trisomy 21 is finally out! We sequenced and assembled chr21 centromeres in individuals with Down syndrome and their parents. We showed that small centromeres are not inherently at risk; instead centromere size asymmetry in some young mothers might be a risk factor for nondisjunction! 111
F. Kumara Mastrorosa @fkma.bsky.social · 23/12/2025Do homologous and non-homologous acrocentric short arms recombine? And if they do, how frequently and why? 020
Reposted by F. Kumara MastrorosaEichlerLab @eichlerlab.bsky.social · 25/09/2025Thank you Dr. Danny Miller @danrdanny.bsky.social for hosting, and fantastic job Dr. Mastrorosa @fkma.bsky.social! @uwgenome.bsky.social brotmanbaty.org/news/long-re... 012
F. Kumara Mastrorosa @fkma.bsky.social · 18/07/2025We updated our preprint describing chr21 centromere genetics/epigenetics in families with Down syndrome and general population! We found transgenerational methylation changes in a subset of families and that centromere size asymmetry is exclusive to T21! www.biorxiv.org/content/10.1... 121
F. Kumara Mastrorosa @fkma.bsky.social · 09/07/2025A deep analysis of the 22q11.2 locus in the human population and affected individuals studying the mechanisms and architectures that predispose to complex rearrangements! 020
F. Kumara Mastrorosa @fkma.bsky.social · 27/06/2025I am very happy to have contributed to the publication of the first high-quality, near-complete Middle Eastern genomes. These data will help population studies, disease gene discovery, and increase population representation in genomic datasets! 010
F. Kumara Mastrorosa @fkma.bsky.social · 28/04/2025The most accurate way so far to study transmission, de novo variants, and recombination! 010
Reposted by F. Kumara MastrorosaNature @nature.com · 09/04/2025Nature research paper: Complete sequencing of ape genomes go.nature.com/3EfWwqkgo.nature.comComplete sequencing of ape genomes - NatureComplete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evolutionary comparisons. 15924
F. Kumara Mastrorosa @fkma.bsky.social · 05/02/2025We recently published CDR-Finder, a tool to study hypomethylated regions in centromeres (academic.oup.com/bioinformati...). The latest update allows to use the tool to study any region of the genome! This will be useful for neocentromeres, promoters and any methylation variable locus!academic.oup.comIdentification and annotation of centromeric hypomethylated regions with CDR-FinderAbstractMotivation. Centromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-rea 130