Riley Mangan
rimangan.bsky.social
Riley Mangan
@rimangan.bsky.social
Computational Biologist. Postdoc at MIT/Broad
Reposted by Riley Mangan
“Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans”
New work on HAQERs, by
@rimangan.bsky.social Yanting Luo Craig Lowe @debbysilver.bsky.social @manoliskellis.bsky.social & colleagues
🧪🧬

www.biorxiv.org/content/10.1...
Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans
Humans exhibit significant phenotypic differences from other great apes, yet pinpointing the underlying genetic changes has been limited by incomplete reference genomes and a reliance on single assemb...
www.biorxiv.org
October 21, 2025 at 10:14 AM
Reposted by Riley Mangan
Thrilled to share our latest study out in @natureportfolio.nature.com led by the fantastically talented Jing Liu. Our study provides insight into a long standing question in biology: What molecular features make us uniquely human and how do these function? www.nature.com/articles/s41...
A human-specific enhancer fine-tunes radial glia potency and corticogenesis - Nature
HARE5, a human accelerated region enhancer, modulates cortical development by influencing neural progenitor cell behaviour, leading to an enlarged neocortex with increased functional independence betw...
www.nature.com
May 14, 2025 at 4:09 PM
Reposted by Riley Mangan
A project five years in the making, we've now published complete "T2T" genomes for six additional ape species! It turns out that finishing (and analyzing) six genomes is slightly more work than one... doi.org/10.1038/s415...
April 9, 2025 at 9:31 PM
Reposted by Riley Mangan
Genome Sequence of a Marine Threespine Stickleback (Gasterosteus aculeatus) from Rabbit Slough in the Cook Inlet https://www.biorxiv.org/content/10.1101/2025.02.06.636934v1
February 9, 2025 at 4:38 AM
Reposted by Riley Mangan
Congrats to Johannes Linder, David Kelley et al. on the journal publication of Borzoi - a long context sequence models of RNA-seq coverage profiles with many nice applications for transcriptional & post-transcriptional regulation & variant effect prediction.

www.nature.com/articles/s41... 1/
Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation - Nature Genetics
Borzoi adapts the Enformer sequence-to-expression model to directly predict RNA-seq coverage, enabling the in-silico analysis of variant effects across multiple layers of gene regulation.
www.nature.com
January 8, 2025 at 10:06 PM
Reposted by Riley Mangan
We're pleased to share our GENCODE 2025 NAR database paper: tinyurl.com/3etnfw4j Thanks to all our collaborators, friends and users. This is now the main citation for our resource, and hopefully also a good explanation of how and why we do what we do.
GENCODE 2025: reference gene annotation for human and mouse
Abstract. GENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as n
tinyurl.com
November 21, 2024 at 11:21 AM