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F. Kumara Mastrorosa

@fkma.bsky.social

Postdoctoral scholar in the Eichler Lab at UW Genome Sciences. Interested in Mendelian disorders, long-read sequencing and structural variations 🇮🇹 🇪🇺

Posts Replies Media

F. Kumara Mastrorosa @fkma.bsky.social · 09/07/2026

A recent preprint now supports our hypothesis and provides a mechanistic model on how centromere size asymmetry can impact meiosis I in mammals www.biorxiv.org/content/10.6...

biorxiv.org

Functional consequences of centromeric satellite array asymmetry in female meiosis

Centromeres are epigenetically specified chromosomal sites that support kinetochore assembly and often embedded within large satellite DNA arrays. Recent telomere to telomere genome assemblies have re...

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F. Kumara Mastrorosa @fkma.bsky.social · 09/07/2026

Our 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!

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F. Kumara Mastrorosa @fkma.bsky.social · 23/12/2025

Do homologous and non-homologous acrocentric short arms recombine? And if they do, how frequently and why?

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Reposted by F. Kumara Mastrorosa

EichlerLab @eichlerlab.bsky.social · 25/09/2025

Thank 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...

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F. Kumara Mastrorosa @fkma.bsky.social · 18/07/2025

@eichlerlab.bsky.social @glennislogsdon.bsky.social

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F. Kumara Mastrorosa @fkma.bsky.social · 18/07/2025

We 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...

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F. Kumara Mastrorosa @fkma.bsky.social · 09/07/2025

A deep analysis of the 22q11.2 locus in the human population and affected individuals studying the mechanisms and architectures that predispose to complex rearrangements!

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F. Kumara Mastrorosa @fkma.bsky.social · 27/06/2025

I 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!

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F. Kumara Mastrorosa @fkma.bsky.social · 28/04/2025

The most accurate way so far to study transmission, de novo variants, and recombination!

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Reposted by F. Kumara Mastrorosa

Nature @nature.com · 09/04/2025

Nature research paper: Complete sequencing of ape genomes go.nature.com/3EfWwqk

go.nature.com

Complete sequencing of ape genomes - Nature

Complete 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.

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F. Kumara Mastrorosa @fkma.bsky.social · 05/02/2025

Here is the tool's GitHub page: github.com/EichlerLab/C...

github.com

GitHub - EichlerLab/CDR-Finder: Workflow to identify the centromere dip regions (CDR) from methyl BAMs

Workflow to identify the centromere dip regions (CDR) from methyl BAMs - EichlerLab/CDR-Finder

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F. Kumara Mastrorosa @fkma.bsky.social · 05/02/2025

Great work from @koisland.bsky.social from @glennislogsdon.bsky.social lab, who keeps the tool updated!

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F. Kumara Mastrorosa @fkma.bsky.social · 05/02/2025

We 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.com

Identification and annotation of centromeric hypomethylated regions with CDR-Finder

AbstractMotivation. Centromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-rea

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