Inigo Martincorena
@imartincorena.bsky.social
Scientist. Group leader at the Sanger Institute, Cambridge UK. Somatic mutation and selection in normal tissues, cancer and ageing.
Pinned
Somatic mutation and selection at population scale - Nature
A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.
www.nature.com
Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people www.nature.com/articles/s41...
Reposted by Inigo Martincorena
Colibactin-DNA interstrand crosslinks structure reveals DNA-damaging acitivity of colibactin that is linked to colorectal cancer #MicroSky www.science.org/doi/10.1126/...
The specificity and structure of DNA cross-linking by the gut bacterial genotoxin colibactin
Accumulating evidence has connected the chemically unstable, DNA-damaging gut bacterial natural product colibactin to colorectal cancer, including the identification of mutational signatures that are ...
www.science.org
December 4, 2025 at 10:07 PM
Colibactin-DNA interstrand crosslinks structure reveals DNA-damaging acitivity of colibactin that is linked to colorectal cancer #MicroSky www.science.org/doi/10.1126/...
Reposted by Inigo Martincorena
What causes bladder cancer initiating mutations?
Our paper in Science Advances asks the question: can BK virus infections of normal urothelium lead to the APOBEC3 mutational signatures found in bladder cancers?
We found that they can!
Our paper in Science Advances asks the question: can BK virus infections of normal urothelium lead to the APOBEC3 mutational signatures found in bladder cancers?
We found that they can!
Virus-induced APOBEC3 transmutagenesis in bladder cancer initiation
A model for hit-and-run viral carcinogenesis in the bladder.
www.science.org
December 4, 2025 at 7:35 AM
What causes bladder cancer initiating mutations?
Our paper in Science Advances asks the question: can BK virus infections of normal urothelium lead to the APOBEC3 mutational signatures found in bladder cancers?
We found that they can!
Our paper in Science Advances asks the question: can BK virus infections of normal urothelium lead to the APOBEC3 mutational signatures found in bladder cancers?
We found that they can!
A short thread. For years, I have been surprised by how much confusion our discovery of clones carrying cancer-driver mutations in normal tissues has caused in the cancer community. Typical questions like: (1) if you see these mutations in normal cells, are they really cancer drivers?... [1/4]
Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people www.nature.com/articles/s41...
Somatic mutation and selection at population scale - Nature
A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.
www.nature.com
October 9, 2025 at 3:29 PM
A short thread. For years, I have been surprised by how much confusion our discovery of clones carrying cancer-driver mutations in normal tissues has caused in the cancer community. Typical questions like: (1) if you see these mutations in normal cells, are they really cancer drivers?... [1/4]
Reposted by Inigo Martincorena
🚨 New paper alert!
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
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 men and smokers.
www.nature.com
October 8, 2025 at 4:44 PM
🚨 New paper alert!
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Sex and smoking bias in the selection of somatic mutations in human bladder
www.nature.com/articles/s41...
by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people www.nature.com/articles/s41...
Somatic mutation and selection at population scale - Nature
A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.
www.nature.com
October 8, 2025 at 4:31 PM
Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people www.nature.com/articles/s41...
Reposted by Inigo Martincorena
Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
Sperm sequencing reveals extensive positive selection in the male germline - Nature
A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.
www.nature.com
October 8, 2025 at 3:51 PM
Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
I am speaking at #AACR25 this afternoon on our latest work on somatic mutations in normal tissues. If you are attending AACR, feel free to drop by and say hello.
brnw.ch/21wRUZZ
brnw.ch/21wRUZZ
April 26, 2025 at 10:10 AM
I am speaking at #AACR25 this afternoon on our latest work on somatic mutations in normal tissues. If you are attending AACR, feel free to drop by and say hello.
brnw.ch/21wRUZZ
brnw.ch/21wRUZZ
If you are looking for an exciting postdoc position, please see below! Adrian Baez Ortega (a former member of the group) is starting an independent group at the University of Cambridge on the evolution of transmissible cancers and is recruiting. tinyurl.com/pdra-cambridge
March 27, 2025 at 1:45 PM
If you are looking for an exciting postdoc position, please see below! Adrian Baez Ortega (a former member of the group) is starting an independent group at the University of Cambridge on the evolution of transmissible cancers and is recruiting. tinyurl.com/pdra-cambridge
Reposted by Inigo Martincorena
The stomach is an organ unique in its function, environment and exposures. How does this affect the mutations that normal cells in the stomach acquire? What does this reveal about the origins of stomach cancer? These questions and more in our @nature.com paper:
www.nature.com/articles/s41...
www.nature.com/articles/s41...
The somatic mutation landscape of normal gastric epithelium - Nature
Whole-gene sequencing of microdissected gastric glands from individuals with and without gastric cancer reveals distinct patterns of somatic mutations and provides insights into influen...
www.nature.com
March 20, 2025 at 2:59 PM
The stomach is an organ unique in its function, environment and exposures. How does this affect the mutations that normal cells in the stomach acquire? What does this reveal about the origins of stomach cancer? These questions and more in our @nature.com paper:
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Inigo Martincorena
Excited to share our new preprint demonstrating somatic rescue mutations in a genetic liver disease! [1/12]
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency - Nature Genetics
The expansion of clones with distinct SERPINA1 somatic mutants in the livers of alpha-1 antitrypsin deficiency (A1AT) patients is consistent with convergent evolution. These variants interfere with th...
www.nature.com
March 12, 2025 at 5:29 PM
Excited to share our new preprint demonstrating somatic rescue mutations in a genetic liver disease! [1/12]
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Inigo Martincorena
Delighted to share a major update on our work investigating age-related deceleration in clonal haematopoiesis.
Takehome: Widespread and substantial deceleration in fitness with age!
Amazing effort by PhD student Hamish MacGregor 💪
www.biorxiv.org/content/10.1...
Takehome: Widespread and substantial deceleration in fitness with age!
Amazing effort by PhD student Hamish MacGregor 💪
www.biorxiv.org/content/10.1...
March 6, 2025 at 7:48 PM
Delighted to share a major update on our work investigating age-related deceleration in clonal haematopoiesis.
Takehome: Widespread and substantial deceleration in fitness with age!
Amazing effort by PhD student Hamish MacGregor 💪
www.biorxiv.org/content/10.1...
Takehome: Widespread and substantial deceleration in fitness with age!
Amazing effort by PhD student Hamish MacGregor 💪
www.biorxiv.org/content/10.1...
Reposted by Inigo Martincorena
Delighted to share my PhD thesis work is now published in @nature.com! This study tracks the journey of blood stem cells in aging mice, examining how the clonal dynmics of blood production change over time. A short 🧵1/n #aging #stemcells #clonalhematopoiesis
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Clonal dynamics and somatic evolution of haematopoiesis in mouse - Nature
Isolating and studying haematopoietic stem cells in young and aged mice demonstrates evolutionary processes related to blood production and provides a framework for interpreting future work using labo...
www.nature.com
March 6, 2025 at 1:58 PM
Delighted to share my PhD thesis work is now published in @nature.com! This study tracks the journey of blood stem cells in aging mice, examining how the clonal dynmics of blood production change over time. A short 🧵1/n #aging #stemcells #clonalhematopoiesis
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Inigo Martincorena
So pleased to have the paper out, available here: www.nature.com/articles/s41586-024-08423-8
For me this was discovery science as I had always hoped it would be. A lot of fun, and some proper detective work with plenty of twists & turns on the way. Brief thread below
For me this was discovery science as I had always hoped it would be. A lot of fun, and some proper detective work with plenty of twists & turns on the way. Brief thread below
January 15, 2025 at 9:44 PM
So pleased to have the paper out, available here: www.nature.com/articles/s41586-024-08423-8
For me this was discovery science as I had always hoped it would be. A lot of fun, and some proper detective work with plenty of twists & turns on the way. Brief thread below
For me this was discovery science as I had always hoped it would be. A lot of fun, and some proper detective work with plenty of twists & turns on the way. Brief thread below
A nice article covering some of the surprises in the field of somatic mosaicism in the last decade. As I say there: "Judging by the discoveries that we are making at the moment, the journey has only just started. I expect many surprises in the next few years." knowablemagazine.org/content/arti...
We are all mosaics
Picture your body: It’s a collection of cells carrying thousands of genetic mistakes accrued over a lifetime — many harmless, some bad, and at least a few that may be good for you.
knowablemagazine.org
January 10, 2025 at 9:59 AM
A nice article covering some of the surprises in the field of somatic mosaicism in the last decade. As I say there: "Judging by the discoveries that we are making at the moment, the journey has only just started. I expect many surprises in the next few years." knowablemagazine.org/content/arti...
Reposted by Inigo Martincorena
Excited to share a major breakthrough from the lab! D&D-seq is a new technology that bridges a key gap in single-cell multi-omics/genomics : the ability to map DNA:Protein interactions (e.g., TFs or chromatin remodellers). Led by Ivan Raimondi, Wei-Yu Chi and Sang-Ho Yoon
🧬 We’re excited to introduce D&D-seq, a single-cell technology that maps DNA:Protein interactions through molecular footprinting. Check it out here: biorxiv.org/content/10.1... #Genomics #Epigenetics
Single-cell mapping of regulatory DNA:Protein interactions
Gene expression is coordinated by a multitude of transcription factors (TFs), whose binding to the genome is directed through multiple interconnected epigenetic signals, including chromatin accessibil...
biorxiv.org
January 2, 2025 at 9:54 PM
Excited to share a major breakthrough from the lab! D&D-seq is a new technology that bridges a key gap in single-cell multi-omics/genomics : the ability to map DNA:Protein interactions (e.g., TFs or chromatin remodellers). Led by Ivan Raimondi, Wei-Yu Chi and Sang-Ho Yoon
Quotient Therapeutics is looking for a new Head of Target Discovery, reporting to Peter Campbell, its new CSO. Lots of exciting somatic genomics in this role. uk.linkedin.com/jobs/view/he...
uk.linkedin.com
December 2, 2024 at 10:37 PM
Quotient Therapeutics is looking for a new Head of Target Discovery, reporting to Peter Campbell, its new CSO. Lots of exciting somatic genomics in this role. uk.linkedin.com/jobs/view/he...
Reposted by Inigo Martincorena
Thrilled to share our latest work on cutaneous T cell lymphoma. Check it out👇🏼
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Cutaneous T cell lymphoma atlas reveals malignant TH2 cells supported by a B cell-rich tumor microenvironment - Nature Immunology
Haniffa and colleagues provide diagnostic aids, potential biomarkers for disease staging and therapeutic strategies for cutaneous T cell lymphoma.
www.nature.com
November 22, 2024 at 4:23 AM
Thrilled to share our latest work on cutaneous T cell lymphoma. Check it out👇🏼
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Resharing here a recent X post. In this preprint, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people. 1/ www.medrxiv.org/content/10.1...
Somatic mutation and selection at epidemiological scale
As we age, many tissues become colonised by microscopic clones carrying somatic driver mutations ([1][1]–[10][2]. Some of these clones represent a first step towards cancer whereas others may contribu...
www.medrxiv.org
November 20, 2024 at 2:28 PM
Resharing here a recent X post. In this preprint, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people. 1/ www.medrxiv.org/content/10.1...
Hello world! It is great to see so many friends and colleagues again. Feel free to follow me for updates on somatic mutation and selection in healthy tissues, ageing and disease.
November 20, 2024 at 1:59 PM
Hello world! It is great to see so many friends and colleagues again. Feel free to follow me for updates on somatic mutation and selection in healthy tissues, ageing and disease.