Raheleh Rahbari
@r-rahbari.bsky.social
Group Leader @Wellcome Sanger Institute. @CRUK fellow | Interested in mutations acquired during aging and their impact across generation.
Reposted by Raheleh Rahbari
If you saw preprint, biggest two updates are: Much improved discussion + variant calls now accessible
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
institutions.newscientist.com
October 8, 2025 at 3:51 PM
If you saw preprint, biggest two updates are: Much improved discussion + variant calls now accessible
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
If you'd like an accessible summary check out this great article from @mjflepage.bsky.social in New Scientist:
For science thread read on! [2/n]
institutions.newscientist.com/article/2499...
Reposted by Raheleh Rahbari
Hotspots of human mutation point to clonal expansions in spermatogonia
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
Hotspots of human mutation point to clonal expansions in spermatogonia - Nature
A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.
www.nature.com
October 8, 2025 at 4:56 PM
Hotspots of human mutation point to clonal expansions in spermatogonia
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
by @vseplyarskiy.bsky.social, Shamil Sunyaev et al
www.nature.com/articles/s41...
Thanks, Nuria! Also congratulations on your yet another beautiful paper: www.nature.com/articles/s41...
Sex and smoking bias in the selection of somatic mutations in human bladder - Nature
Sex bias and association with smoking history identified in the landscape of driver mutations and clonal expansions in normal human bladder tissue may explain the higher bladder cancer risk in me...
www.nature.com
October 14, 2025 at 5:43 PM
Thanks, Nuria! Also congratulations on your yet another beautiful paper: www.nature.com/articles/s41...
Reposted by Raheleh Rahbari
This was a great collaboration between @geneticscam.bsky.social & @sangerinstitute.bsky.social, specifically the @hilarycmartin.bsky.social and @r-rahbari.bsky.social groups. We are also grateful to @genomicsengland.bsky.social for generating and supporting this fantastic resource.
May 16, 2025 at 7:41 PM
This was a great collaboration between @geneticscam.bsky.social & @sangerinstitute.bsky.social, specifically the @hilarycmartin.bsky.social and @r-rahbari.bsky.social groups. We are also grateful to @genomicsengland.bsky.social for generating and supporting this fantastic resource.
Reposted by Raheleh Rahbari
A fun collaboration with @aylwyn-scally.bsky.social and @r-rahbari.bsky.social's groups using data from @genomicsengland.bsky.social . Paper here: rdcu.be/embGi
The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra
Nature Communications - Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that...
urldefense.proofpoint.com
May 16, 2025 at 8:17 PM
A fun collaboration with @aylwyn-scally.bsky.social and @r-rahbari.bsky.social's groups using data from @genomicsengland.bsky.social . Paper here: rdcu.be/embGi
This is a great idea! I’d love to join plz.
April 23, 2025 at 10:48 AM
This is a great idea! I’d love to join plz.
Reposted by Raheleh Rahbari
If you’d like to work on such projects, our team is hiring postdocs! We are part of the new Generative and Synthetic Genomics programme with @benlehner.bsky.social and Jussi Taipale, combining data generation at scale with AI to solve biology.Check out sanger.wd103.myworkdayjobs.com/en-US/Wellco...
Postdoctoral Fellow | Generative and Synthetic Genomics
Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...
sanger.wd103.myworkdayjobs.com
January 31, 2025 at 1:49 PM
If you’d like to work on such projects, our team is hiring postdocs! We are part of the new Generative and Synthetic Genomics programme with @benlehner.bsky.social and Jussi Taipale, combining data generation at scale with AI to solve biology.Check out sanger.wd103.myworkdayjobs.com/en-US/Wellco...
Reposted by Raheleh Rahbari
Two months ago, an amazing preprint by
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
January 6, 2025 at 1:06 AM
Two months ago, an amazing preprint by
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.
@r-rahbari.bsky.social
's group studied positive selection in sperm via direct sequencing. With her and
@mattneville.bsky.social
's help, we compared findings—remarkably concordant! Our LoF genes show 16x more mutations, GoF sites 524x more.