Reconstructing phylogenetic trees from genome-wide somatic mutations in clonal samples

Tim H. H. Coorens, Inigo Martincorena, Peter J. Campbell, Michael Spencer Chapman, Nicholas Williams, Michael R. Stratton, Jyoti Nangalia

Published: 2024-02-23 DOI: 10.1038/s41596-024-00962-8

somatic mutations

phylogenetic tree reconstruction

clonal samples

Sequoia pipeline

single-cell DNA sequencing

AI 解读

Supplementary information

Reporting Summary

Efficient and safe single-cell cloning of human pluripotent stem cells using the CEPT cocktail

Profiling native pulmonary basement membrane stiffness using atomic force microscopy

Genetic circuit design automation with Cello 2.0

Synthesis of siRNA nanoparticles to silence plaque-destabilizing gene in atherosclerotic lesional macrophages

Scalable dual-omics profiling with single-nucleus chromatin accessibility and mRNA expression sequencing 2 (SNARE-seq2)

A practical guide to scanning light-field microscopy with digital adaptive optics

Effective high-throughput isolation of fully human antibodies targeting infectious pathogens

Improved sampling and DNA extraction procedures for microbiome analysis in food-processing environments

MOF-derived nanoporous carbons with diverse tunable nanoarchitectures

Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease

查看全部

Sections

Figures

References

Supplementary information

Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021).
Benjamin, D. et al. Calling somatic SNVs and indels with Mutect2. Preprint at bioRxiv http://doi.org/10.1101/861054 (2019).
Coorens, T. H. H. et al. Extensive phylogenies of human development inferred from somatic mutations. Nature 597, 387–392 (2021).
Moore, L. et al. The mutational landscape of human somatic and germline cells. Nature 597, 381–386 (2021).
Lodato, M. A. et al. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 350, 94–98 (2015).
Luquette, L. J. et al. Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements. Nat. Genet. 54, 1564–1571 (2022).
Blokzijl, F. et al. Tissue-specific mutation accumulation in human adult stem cells during life. Nature 538, 260–264 (2016).
Lee-Six, H. et al. Population dynamics of normal human blood inferred from somatic mutations. Nature 561, 473–478 (2018).
Behjati, S. et al. Genome sequencing of normal cells reveals developmental lineages and mutational processes. Nature 513, 422–425 (2014).
Spencer Chapman, M. et al. Lineage tracing of human development through somatic mutations. Nature 595, 85–90 (2021).
Ellis, P. et al. Reliable detection of somatic mutations in solid tissues by laser-capture microdissection and low-input DNA sequencing. Nat. Protoc. 16, 841–871 (2021).
Mitchell, E. et al. Clonal dynamics of haematopoiesis across the human lifespan. Nature 606, 343–350 (2022).
Williams, N. et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature 602, 162–168 (2022).
Coorens, T. H. H. et al. Inherent mosaicism and extensive mutation of human placentas. Nature 592, 80–85 (2021).
Yoshida, K. et al. Tobacco smoking and somatic mutations in human bronchial epithelium. Nature 578, 266–272 (2020).
Moore, L. et al. The mutational landscape of normal human endometrial epithelium. Nature 580, 640–646 (2020).
Lawson, A. R. J. et al. Extensive heterogeneity in somatic mutation and selection in the human bladder. Science 370, 75–82 (2020).
Lee-Six, H. et al. The landscape of somatic mutation in normal colorectal epithelial cells. Nature 574, 532–537 (2019).
Park, S. et al. Clonal dynamics in early human embryogenesis inferred from somatic mutation. Nature 597, 393–397 (2021).
Robinson, P. S. et al. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells. Nat. Commun. 13, 1–12 (2022).
Robinson, P. S. et al. Increased somatic mutation burdens in normal human cells due to defective DNA polymerases. Nat. Genet. 53, 1434–1442 (2021).
Olafsson, S. et al. Somatic evolution in non-neoplastic IBD-affected colon. Cell 182, 672–684.e11 (2020).
Lee, B. C. H. et al. Mutational landscape of normal epithelial cells in Lynch syndrome patients. Nat. Commun. 13, 2710 (2022).
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Nature 578, 82–93 (2020).
Jones, D. et al. cgpCaVEManWrapper: simple execution of caveman in order to detect somatic single nucleotide variants in NGS data. Curr. Protoc. Bioinforma. 2016, 15.10.1–15.10.18 (2016).
Raine, K. M. et al. cgpPindel: identifying somatically acquired insertion and deletion events from paired end sequencing. Curr. Protoc. Bioinforma. 52, 15.7.1–15.7.12 (2015).
Van Loo, P. et al. Allele-specific copy number analysis of tumors. Proc. Natl Acad. Sci. USA 107, 16910–16915 (2010).
Nik-Zainal, S. et al. The life history of 21 breast cancers. Cell 149, 994–1007 (2012).
Cibulskis, K. et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat. Biotechnol. 31, 213–219 (2013).
Saunders, C. T. et al. Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs. Bioinformatics 28, 1811–1817 (2012).
Carter, S. L. et al. Absolute quantification of somatic DNA alterations in human cancer. Nat. Biotechnol. 30, 413–421 (2012).
Wala, J. A. et al. SvABA: genome-wide detection of structural variants and indels by local assembly. Genome Res. 28, 581–591 (2018).
Ellrott, K. et al. Scalable open science approach for mutation calling of tumor exomes using multiple genomic pipelines. Cell Syst. 6, 271–281.e7 (2018).
Coorens, T. H. H. et al. Embryonal precursors of Wilms tumor. Science 366, 1247–1251 (2019).
Coorens, T. H. H. et al. Lineage-independent tumors in bilateral neuroblastoma. N. Engl. J. Med. http://doi.org/10.1056/nejmoa2000962 (2020).
Custers, L. et al. Somatic mutations and single-cell transcriptomes reveal the root of malignant rhabdoid tumours. Nat. Commun. 12, 1407 (2021).
Hoang, D. T. et al. MPBoot: fast phylogenetic maximum parsimony tree inference and bootstrap approximation. BMC Evol. Biol. 18, 1–11 (2018).
Yang, Z. & Rannala, B. Molecular phylogenetics: principles and practice. Nat. Rev. Genet. 13, 303–314 (2012).
Swofford, D. L. PAUP*. Phylogenetic Analysis Using Parsimony (*and Other Methods). Version 4.0 beta 10 (Sinauer Associates, 2002).
Tavaré, S. et al. Some probabilistic and statistical problems in the analysis of DNA sequences. Lect. Math. Life Sci. 17, 57–86 (1986).
Ng, S. W. K. et al. Convergent somatic mutations in metabolism genes in chronic liver disease. Nature 598, 473–478 (2021).
Fasching, L. et al. Early developmental asymmetries in cell lineage trees in living individuals. Science 371, 1245–1248 (2021).
Roth, A. et al. PyClone: statistical inference of clonal population structure in cancer. Nat. Methods 11, 396–398 (2014).
Leshchiner, I. et al. Comprehensive analysis of tumour initiation, spatial and temporal progression under multiple lines of treatment. Preprint at bioRxiv http://doi.org/10.1101/508127. (2018).
Oliver, T. R. W. et al. Clonal diversification and histogenesis of malignant germ cell tumours. Nat. Commun. 13, 4272 (2022).
Brunner, S. F. et al. Somatic mutations and clonal dynamics in healthy and cirrhotic human liver. Nature 574, 538–542 (2019).
Jahn, K., Kuipers, J. & Beerenwinkel, N. Tree inference for single-cell data. Genome Biol. 17, 1–17 (2016).
Ross, E. M. & Markowetz, F. OncoNEM: inferring tumor evolution from single-cell sequencing data. Genome Biol. 17, 69 (2016).
Zafar, H., Tzen, A., Navin, N., Chen, K. & Nakhleh, L. SiFit: inferring tumor trees from single-cell sequencing data under finite-sites models. Genome Biol. 18, 178 (2017).
Lawless, C., Greaves, L., Reeve, A. K., Turnbull, D. M. & Vincent, A. E. The rise and rise of mitochondrial DNA mutations. Open Biol. 10, 200061 (2020).
Volz, E. M., Koelle, K. & Bedford, T. Viral phylodynamics. PLoS Comput. Biol. 9, e1002947 (2013).
Fabre, M. A. et al. The longitudinal dynamics and natural history of clonal haematopoiesis. Nature 606, 335–342 (2022).
Jaiswal, S. & Ebert, B. L. Clonal hematopoiesis in human aging and disease. Science 366, eaan4673 (2019).
Sanders, M. A. et al. Life without mismatch repair. Preprint at bioRxiv http://doi.org/10.1101/2021.04.14.437578 (2021).
Malikic, S., Jahn, K., Kuipers, J., Sahinalp, S. C. & Beerenwinkel, N. Integrative inference of subclonal tumour evolution from single-cell and bulk sequencing data. Nat. Commun. 10, 1–12 (2019).
Kaufman, D. S., Hanson, E. T., Lewis, R. L., Auerbach, R. & Thomson, J. A. Hematopoietic colony-forming cells derived from human embryonic stem cells. Proc. Natl Acad. Sci. USA 98, 10716–10721 (2001).
Saunders, I. W., Tavaré, S. & Watterson, G. A. On the genealogy of nested subsamples from a haploid population. Adv. Appl. Probab. 16, 471–491 (1984).
Rahbari, R. et al. Timing, rates and spectra of human germline mutation. Nat. Genet. 48, 126–133 (2016).

Reconstructing phylogenetic trees from genome-wide somatic mutations in clonal samples

Supplementary information

Reporting Summary

推荐阅读