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After many years and a real journey, we are excited to share our preprint on mutations in human cells!
We studied multiple samples from the same individuals to explore mutational landscapes across cells and tissues. #Panbodymap
https://www.biorxiv.org/content/10.1101/2020.11.25.398172v1
Thread [1/10]
![After many years and a real journey, we are excited to share our preprint on mutations in human cells!We studied multiple samples from the same individuals to explore mutational landscapes across cells and tissues. #Panbodymap https://www.biorxiv.org/content/10.1101/2020.11.25.398172v1Thread [1/10]](https://pbs.twimg.com/media/En0vAX5WMAAaeCY.png "After many years and a real journey, we are excited to share our preprint on mutations in human cells!We studied multiple samples from the same individuals to explore mutational landscapes across cells and tissues. #Panbodymap https://www.biorxiv.org/content/10.1101/2020.11.25.398172v1Thread [1/10]")
We studied multiple samples from the same individuals to explore mutational landscapes across cells and tissues. #Panbodymap
https://www.biorxiv.org/content/10.1101/2020.11.25.398172v1
Thread [1/10]
Our bodies are composed of trillions of cells that work together to form tissue and organs. But how genomically diverse are we?
To answer this question, we microdissected & sequenced (>500 whole genomes) 29 microscopic structures from soma and germline
from 3 individuals [2/10]
![Our bodies are composed of trillions of cells that work together to form tissue and organs. But how genomically diverse are we?To answer this question, we microdissected & sequenced (>500 whole genomes) 29 microscopic structures from soma and germlinefrom 3 individuals [2/10]](https://pbs.twimg.com/media/En0wfMlW4Ac9hoQ.png "Our bodies are composed of trillions of cells that work together to form tissue and organs. But how genomically diverse are we?To answer this question, we microdissected & sequenced (>500 whole genomes) 29 microscopic structures from soma and germlinefrom 3 individuals [2/10]")
To answer this question, we microdissected & sequenced (>500 whole genomes) 29 microscopic structures from soma and germline
from 3 individuals [2/10]
Microdissected biopsies from different tissues showed substantially different clonal compositions with different VAF distributions [3/10]
![Microdissected biopsies from different tissues showed substantially different clonal compositions with different VAF distributions [3/10]](https://pbs.twimg.com/media/En0w4fdW8AEQFQr.png "Microdissected biopsies from different tissues showed substantially different clonal compositions with different VAF distributions [3/10]")
We compared mutation burdens across tissues. Crypts have the highest rates (52 SBS/year), but lower rates were in gastric glands (25 SBS/year), prostatic glands (19 SBS/year) & pancreatic acini (15 SBS/year). Remarkably, the male germline rate was much lower (2.6 SBS/year)[4/10]
![We compared mutation burdens across tissues. Crypts have the highest rates (52 SBS/year), but lower rates were in gastric glands (25 SBS/year), prostatic glands (19 SBS/year) & pancreatic acini (15 SBS/year). Remarkably, the male germline rate was much lower (2.6 SBS/year)[4/10]](https://pbs.twimg.com/media/En05VuWXIAIQaWv.png "We compared mutation burdens across tissues. Crypts have the highest rates (52 SBS/year), but lower rates were in gastric glands (25 SBS/year), prostatic glands (19 SBS/year) & pancreatic acini (15 SBS/year). Remarkably, the male germline rate was much lower (2.6 SBS/year)[4/10]")
![We compared mutation burdens across tissues. Crypts have the highest rates (52 SBS/year), but lower rates were in gastric glands (25 SBS/year), prostatic glands (19 SBS/year) & pancreatic acini (15 SBS/year). Remarkably, the male germline rate was much lower (2.6 SBS/year)[4/10]](https://pbs.twimg.com/media/En05Zk9XMAE7xH9.jpg "We compared mutation burdens across tissues. Crypts have the highest rates (52 SBS/year), but lower rates were in gastric glands (25 SBS/year), prostatic glands (19 SBS/year) & pancreatic acini (15 SBS/year). Remarkably, the male germline rate was much lower (2.6 SBS/year)[4/10]")
We explored mutational processes and extracted mutational signatures and estimated mutation burdens attributable to specific signatures [5/10]
![We explored mutational processes and extracted mutational signatures and estimated mutation burdens attributable to specific signatures [5/10]](https://pbs.twimg.com/media/En05zTdXcAAJhbZ.jpg "We explored mutational processes and extracted mutational signatures and estimated mutation burdens attributable to specific signatures [5/10]")
Telomere shortening is a hallmark of ageing - we looked at the relative telomere length across all cell types and found substantial variability between cell types.
Thomas Olliver @d4l997
@briscoejames
Thomas Olliver @d4l997
@briscoejames
We compared mutational biases and replication timing between different somatic tissues and the germline [7/10]
![We compared mutational biases and replication timing between different somatic tissues and the germline [7/10]](https://pbs.twimg.com/media/En062H9W4AE12ib.jpg "We compared mutational biases and replication timing between different somatic tissues and the germline [7/10]")
This work is a collaborative effort by so many people -
@MathijsSanders @ATJCagan @TimCoorens @MDC_Neville @RasheshSanghvi Thomas Olliver @d4l997 @Tom_J_Mitchell @ciacobu @imartincorena @Heer_Lab Peter Campbell Mike Stratton &
@R_Rahbari @sangerinstitute & many others [8/10]
@MathijsSanders @ATJCagan @TimCoorens @MDC_Neville @RasheshSanghvi Thomas Olliver @d4l997 @Tom_J_Mitchell @ciacobu @imartincorena @Heer_Lab Peter Campbell Mike Stratton &
@R_Rahbari @sangerinstitute & many others [8/10]
Finally, we are really grateful to all the patients and their families who have donated their precious samples - without them, none of this would've been possible [9/10]
To find out about tissue development, mutation burdens and processes in embryogenesis, please read these 2 papers [10/10]
@GenomeDoctor @psy700
https://www.biorxiv.org/content/10.1101/2020.11.23.395244v1.article-metrics
@TimCoorens
https://www.biorxiv.org/content/10.1101/2020.11.25.397828v1
#Panbodymap
@GenomeDoctor @psy700
https://www.biorxiv.org/content/10.1101/2020.11.23.395244v1.article-metrics
@TimCoorens
https://www.biorxiv.org/content/10.1101/2020.11.25.397828v1
#Panbodymap
