Tom Sasani
@tomsasani.bsky.social
Genetics and genomics with the Quinlan Lab @ Utah.
tomsasani.github.io
tomsasani.github.io
Reposted by Tom Sasani
New preprint from another part of my PhD! 📝👇
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Landscape of parental postzygotic mutations in >11,000 rare disease trios
Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the par...
tinyurl.com
October 28, 2025 at 11:04 AM
New preprint from another part of my PhD! 📝👇
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
Reposted by Tom Sasani
If you’ve ever wondered about the statistical significance of differences among mutational signature profiles, check out our new Aggregate Mutation Spectrum Distance (AMSD) preprint co-led by Sam Hart and @alisonfeder.bsky.social with @nalcala.bsky.social www.biorxiv.org/cgi/content/...
A signature-agnostic test for differences between tumor mutation spectra reveals carcinogen and ancestry effects
Mutational signatures contain valuable information about the mutational processes shaping cancer genomes. However, despite dozens of tools to identify signatures in cancer samples, there is not an est...
www.biorxiv.org
May 20, 2025 at 4:58 PM
If you’ve ever wondered about the statistical significance of differences among mutational signature profiles, check out our new Aggregate Mutation Spectrum Distance (AMSD) preprint co-led by Sam Hart and @alisonfeder.bsky.social with @nalcala.bsky.social www.biorxiv.org/cgi/content/...
Excited to share my latest with @kelleyharris.bsky.social and @aaronquinlan.bsky.social, now out as an eLife "version of record!" We found evidence for a second germline mutator allele in a population of 🐁 RILs, adding even more complexity to the story of mutation spectrum variation in lab mice.
Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice
Germline mutation rates in mice are shaped by two mutator alleles that interact epistatically, showing that DNA repair defects that map to different loci can have snowballing effects.
elifesciences.org
March 4, 2024 at 3:17 PM
Excited to share my latest with @kelleyharris.bsky.social and @aaronquinlan.bsky.social, now out as an eLife "version of record!" We found evidence for a second germline mutator allele in a population of 🐁 RILs, adding even more complexity to the story of mutation spectrum variation in lab mice.