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!

The American Journal of Human Genetics@ajhgnews.bsky.social · 2mo ago

🧬New from @eichlerlab.bsky.social 📄Complete chromosome 21 centromere sequencing of families with Down syndrome 🧑‍🤝‍🧑 @glennislogsdon.bsky.social @fkma.bsky.social & co

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

EichlerLab@eichlerlab.bsky.social · 8mo ago

We assembled acrocentric short arms of 23 samples from a 4-generation pedigree, revealing unique mutational & recombination patterns from these highly repetitive regions usually excluded in genetic analysis. Preprint: www.biorxiv.org/content/10.6... @uwgenome.bsky.social @hhmi-science.bsky.social

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...

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!

EichlerLab@eichlerlab.bsky.social · last yr.

www.biorxiv.org/content/10.1...

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!

Nature Genetics@natgenet.nature.com · last yr.

📢 ONLINE @natgenet.nature.com 📰Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery. By Mohammadmersad Ghorbani, Younes Mokrab and colleagues. ⬇️ www.nature.com/articles/s41...

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

EichlerLab@eichlerlab.bsky.social · last yr.

Our Nature paper (rdcu.be/ei1NM) deep sequencing a 4-generation, 28-member family using multiple sequencing technologies to study transmission of all classes of genetic variation is out! @uwgenome.bsky.social @hhmi.org @pacbio.bsky.social @utah.edu

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

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.

go.nature.com

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!

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

academic.oup.com