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...

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!

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!

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

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

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!