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Birney Group

Intraspecies variation in medaka fish and humans

Publications

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Hetairos is a histology-based artificial intelligence model for predicting central nervous system tumor methylation subtypes.

Jin D, Shmatko A, Patel A, Rutz S, Friedrich L, Banan R, Rahmanzade R, Sievers P, Hamelmann S, Schrimpf D, Göbel K, Bogumil H, Maas SLN, Sill M, Hinz FE, Suwala AK, Keller F, Habel A, Rukhovich G, Zettl F, Alhalabi OT, Ille S, Sehring J, Amsel D, Wiestler B, Piovesan Lago P, Suchorska B, Ahmad O, Sturm D, Reuss D, Wesseling P, Wöhrer A, Heppner FL, Blümcke I, Delbridge C, Jakobs M, Herold-Mende C, Krieg SM, Wick W, Jones DTW, Pfister SM, Al-Hussaini M, Hou Y, D'Almeida Costa F, Schweizer L, Bertero L, Acker T, Tauziede-Espariat A, Varlet P, Merkler D, Egervari K, Dohmen H, Zoroquiain P, Gejman R, Brandner S, Bai X, von Deimling A, Sahm F, Gerstung M.

Nature cancer, 2026

doi:10.1038/s43018-026-01186-3.

Reprogramming of stroma-derived chemokine networks drives the loss of tissue organization in nodal B cell lymphoma.

Czernilofsky F, Mathioudaki A, Jopp-Saile L, Lutz R, Vonficht D, Wang X, Schniederjohann C, Voehringer H, Roider T, Baertsch MA, Rodemer C, Löffler-Wirth H, Grau M, Fitzgerald D, Mammen J, Kosla J, Liebers N, Bruch PM, Ordoñez-Rueda D, Brobeil A, Mechtersheimer G, Pabst C, Müller-Tidow C, Trumpp A, Seifert M, Neumann F, Heikenwälder M, Benes V, Huber W, Distler J, Lenz G, Binder H, Siebert R, Nolan GP, Gerstung M, Zaugg JB, Hübschmann D, Haas S, Dietrich S.

Nature cancer, 2026

doi:10.1038/s43018-026-01136-z.

A microenvironment-determined risk continuum refines subtyping in meningioma and reveals determinants of machine learning-based tumor classification.

Maas SLN, Tang Y, Stutheit-Zhao E, Rahmanzade R, Blume C, Hielscher T, Zettl F, Benfatto S, Calafato D, Sill M, Benotmane JK, Yabo YA, Behling F, Suwala A, Kardo H, Ritter M, Peyre M, Sankowski R, Okonechnikov K, Sievers P, Patel A, Reuss D, Friedrich MJ, Stichel D, Schrimpf D, Van den Bosch TPP, Beck K, Wirsching HG, Jungwirth G, Hanemann CO, Lamszus K, Etminan N, Unterberg A, Mawrin C, Remke M, Ayrault O, Lichter P, Reifenberger G, Platten M, Kacprowski T, List M, Pauling JK, Baumbach J, Milde T, Grossmann R, Ram Z, Ratliff M, Mallm JP, Neidert MC, Bos EM, Prinz M, Weller M, Acker T, Hartmann FJ, Preusser M, Tabatabai G, Herold-Mende C, Krieg SM, Jones DTW, Pfister SM, Wick W, Kalamarides M, von Deimling A, Heiland DH, Hovestadt V, Gerstung M, Schlesner M, German “Aggressive Meningiomas” Consortium (KAM), Sahm F.

Nature genetics, 2026

doi:10.1038/s41588-025-02475-w.

Genome-wide associations spanning 194 in-hospital drug dosage change phenotypes highlight diverse genetic backgrounds in concurrent drug therapy

Henriksen AP, Leal Rodríguez C, Currant H, Louloudis I, Biel JH, Herrero-Zazo M, Birney E, Hansen TF, Mazzoni G, Haue AD, Bundgaard H, Erikstrup C, Dinh KM, Quinn L, Bruun MT, Hjalgrim H, Sørensen E, Mikkelsen C, Schwinn M, Vestager Pedersen OB, Ullum H, Ostrowski SR, DBDS Genomic Consortium, Banasik K, Brunak S.

Preprint, 2025

doi:10.1101/2025.02.04.25321575.

Structural variation in 1,019 diverse humans based on long-read sequencing.

Schloissnig S, Pani S, Ebler J, Hain C, Tsapalou V, Söylev A, Hüther P, Ashraf H, Prodanov T, Asparuhova M, Magalhães H, Höps W, Sotelo-Fonseca JE, Fitzgerald T, Santana-Garcia W, Moreira-Pinhal R, Hunt S, Pérez-Llanos FJ, Wollenweber TE, Sivalingam S, Wieczorek D, Cáceres M, Gilissen C, Birney E, Ding Z, Jensen JN, Podduturi N, Stutzki J, Rodriguez-Martin B, Rausch T, Marschall T, Korbel JO.

Nature, 2025

doi:10.1038/s41586-025-09290-7.

Genome-wide association testing beyond SNPs.

Harris L, McDonagh EM, Zhang X, Fawcett K, Foreman A, Daneck P, Sergouniotis PI, Parkinson H, Mazzarotto F, Inouye M, Hollox EJ, Birney E, Fitzgerald T.

Nature reviews. Genetics, 2024

doi:10.1038/s41576-024-00778-y.

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.

Light N, Layeghifard M, Attery A, Subasri V, Zatzman M, Anderson ND, Hatkar R, Blay S, Chen D, Novokmet A, Fuligni F, Tran J, de Borja R, Agarwal H, Waldman L, Abegglen LM, Albertson D, Finlay JL, Hansford JR, Behjati S, Villani A, Gerstung M, Alexandrov LB, Somers GR, Schiffman JD, Rotter V, Malkin D, Shlien A.

Nature communications, 2023

doi:10.1038/s41467-022-35727-y.

Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England.

Vöhringer HS, Sanderson T, Sinnott M, De Maio N, Nguyen T, Goater R, Schwach F, Harrison I, Hellewell J, Ariani CV, Gonçalves S, Jackson DK, Johnston I, Jung AW, Saint C, Sillitoe J, Suciu M, Goldman N, Panovska-Griffiths J, Wellcome Sanger Institute COVID-19 Surveillance Team, COVID-19 Genomics UK (COG-UK) Consortium*, Birney E, Volz E, Funk S, Kwiatkowski D, Chand M, Martincorena I, Barrett JC, Gerstung M.

Nature, 2022

doi:10.1038/s41586-022-04887-8.

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA, de Almeida JG, Fiorillo E, Mitchell E, Damaskou A, Rak J, Orrù V, Marongiu M, Chapman MS, Vijayabaskar MS, Baxter J, Hardy C, Abascal F, Williams N, Nangalia J, Martincorena I, Campbell PJ, McKinney EF, Cucca F, Gerstung M, Vassiliou GS.

Nature, 2022

doi:10.1038/s41586-022-04785-z.

Somatic mutation rates scale with lifespan across mammals.

Cagan A, Baez-Ortega A, Brzozowska N, Abascal F, Coorens THH, Sanders MA, Lawson ARJ, Harvey LMR, Bhosle S, Jones D, Alcantara RE, Butler TM, Hooks Y, Roberts K, Anderson E, Lunn S, Flach E, Spiro S, Januszczak I, Wrigglesworth E, Jenkins H, Dallas T, Masters N, Perkins MW, Deaville R, Druce M, Bogeska R, Milsom MD, Neumann B, Gorman F, Constantino-Casas F, Peachey L, Bochynska D, Smith ESJ, Gerstung M, Campbell PJ, Murchison EP, Stratton MR, Martincorena I.

Nature, 2022

doi:10.1038/s41586-022-04618-z.

RSAT 2022: regulatory sequence analysis tools.

Santana-Garcia W, Castro-Mondragon JA, Padilla-Gálvez M, Nguyen NTT, Elizondo-Salas A, Ksouri N, Gerbes F, Thieffry D, Vincens P, Contreras-Moreira B, van Helden J, Thomas-Chollier M, Medina-Rivera A.

Nucleic acids research, 2022

doi:10.1093/nar/gkac312.

A Minimal Information Model for Potential Drug-Drug Interactions.

Hochheiser H, Jing X, Garcia EA, Ayvaz S, Sahay R, Dumontier M, Banda JM, Beyan O, Brochhausen M, Draper E, Habiel S, Hassanzadeh O, Herrero-Zazo M, Hocum B, Horn J, LeBaron B, Malone DC, Nytrø Ø, Reese T, Romagnoli K, Schneider J, Zhang LY, Boyce RD.

Frontiers in pharmacology, 2021

doi:10.3389/fphar.2020.608068.

Genomic reconstruction of the SARS-CoV-2 epidemic in England.

Vöhringer HS, Sanderson T, Sinnott M, De Maio N, Nguyen T, Goater R, Schwach F, Harrison I, Hellewell J, Ariani CV, Gonçalves S, Jackson DK, Johnston I, Jung AW, Saint C, Sillitoe J, Suciu M, Goldman N, Panovska-Griffiths J, Wellcome Sanger Institute COVID-19 Surveillance Team, COVID-19 Genomics UK (COG-UK) Consortium*, Birney E, Volz E, Funk S, Kwiatkowski D, Chand M, Martincorena I, Barrett JC, Gerstung M.

Nature, 2021

doi:10.1038/s41586-021-04069-y.

Somatic mutation rates scale with lifespan across mammals

Cagan A, Baez-Ortega A, Brzozowska N, Abascal F, Coorens THH, Sanders MA, Lawson ARJ, Harvey LMR, Bhosle S, Jones D, Alcantara RE, Butler TM, Hooks Y, Roberts K, Anderson E, Lunn S, Flach E, Spiro S, Januszczak I, Wrigglesworth E, Jenkins H, Dallas T, Masters N, Perkins MW, Deaville R, Druce M, Bogeska R, Milsom MD, Neumann B, Gorman F, Constantino-Casas F, Peachey L, Bochynska D, John Smith ES, Gerstung M, Campbell PJ, Murchison EP, Stratton MR, Martincorena I.

Preprint, 2021

doi:10.1101/2021.08.19.456982.

Patterns of within-host genetic diversity in SARS-CoV-2.

Tonkin-Hill G, Martincorena I, Amato R, Lawson ARJ, Gerstung M, Johnston I, Jackson DK, Park N, Lensing SV, Quail MA, Gonçalves S, Ariani C, Spencer Chapman M, Hamilton WL, Meredith LW, Hall G, Jahun AS, Chaudhry Y, Hosmillo M, Pinckert ML, Georgana I, Yakovleva A, Caller LG, Caddy SL, Feltwell T, Khokhar FA, Houldcroft CJ, Curran MD, Parmar S, COVID-19 Genomics UK (COG-UK) Consortium, Alderton A, Nelson R, Harrison EM, Sillitoe J, Bentley SD, Barrett JC, Torok ME, Goodfellow IG, Langford C, Kwiatkowski D, Wellcome Sanger Institute COVID-19 Surveillance Team.

eLife, 2021

doi:10.7554/elife.66857.

The longitudinal dynamics and natural history of clonal haematopoiesis

Fabre MA, Almeida JGd, Fiorillo E, Mitchell E, Damaskou A, Rak J, Orrù V, Marongiu M, Vijayabaskar M, Baxter J, Hardy C, Abascal F, Chapman MS, Williams N, Nangalia J, Martincorena I, Campbell PJ, McKinney EF, Cucca F, Gerstung M, Vassiliou GS.

Preprint, 2021

doi:10.1101/2021.08.12.455048.

Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival.

Anderson ND, Babichev Y, Fuligni F, Comitani F, Layeghifard M, Venier RE, Dentro SC, Maheshwari A, Guram S, Wunker C, Thompson JD, Yuki KE, Hou H, Zatzman M, Light N, Bernardini MQ, Wunder JS, Andrulis IL, Ferguson P, Razak ARA, Swallow CJ, Dowling JJ, Al-Awar RS, Marcellus R, Rouzbahman M, Gerstung M, Durocher D, Alexandrov LB, Dickson BC, Gladdy RA, Shlien A.

Nature communications, 2021

doi:10.1038/s41467-021-24677-6.

Somatic mutation landscapes at single-molecule resolution.

Abascal F, Harvey LMR, Mitchell E, Lawson ARJ, Lensing SV, Ellis P, Russell AJC, Alcantara RE, Baez-Ortega A, Wang Y, Kwa EJ, Lee-Six H, Cagan A, Coorens THH, Chapman MS, Olafsson S, Leonard S, Jones D, Machado HE, Davies M, Øbro NF, Mahubani KT, Allinson K, Gerstung M, Saeb-Parsy K, Kent DG, Laurenti E, Stratton MR, Rahbari R, Campbell PJ, Osborne RJ, Martincorena I.

Nature, 2021

doi:10.1038/s41586-021-03477-4.

Life without mismatch repair

Sanders MA, Vöhringer H, Forster VJ, Moore L, Campbell BB, Hooks Y, Edwards M, Bianchi V, Coorens THH, Butler TM, Lee-Six H, Robinson PS, Flensburg C, Bilardi RA, Majewski IJ, Reschke A, Cairney E, Crooks B, Lindhorst S, Stearns D, Tomboc P, McDermott U, Stratton MR, Shlien A, Gerstung M, Tabori U, Campbell PJ.

Preprint, 2021

doi:10.1101/2021.04.14.437578.

Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes.

Dentro SC, Leshchiner I, Haase K, Tarabichi M, Wintersinger J, Deshwar AG, Yu K, Rubanova Y, Macintyre G, Demeulemeester J, Vázquez-García I, Kleinheinz K, Livitz DG, Malikic S, Donmez N, Sengupta S, Anur P, Jolly C, Cmero M, Rosebrock D, Schumacher SE, Fan Y, Fittall M, Drews RM, Yao X, Watkins TBK, Lee J, Schlesner M, Zhu H, Adams DJ, McGranahan N, Swanton C, Getz G, Boutros PC, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Martincorena I, Markowetz F, Mustonen V, Yuan K, Gerstung M, Spellman PT, Wang W, Morris QD, Wedge DC, Van Loo P, PCAWG Evolution and Heterogeneity Working Group and the PCAWG Consortium.

Cell, 2021

doi:10.1016/j.cell.2021.03.009.

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

de Marvao A, McGurk KA, Zheng SL, Thanaj M, Bai W, Duan J, Biffi C, Mazzarotto F, Statton B, Dawes TJ, Savioli N, Halliday BP, Xu X, Buchan RJ, Baksi AJ, Quinlan M, Tokarczuk P, Tayal U, Francis C, Whiffin N, Theotokis PI, Zhang X, Jang M, Berry A, Pantazis A, Barton PJ, Rueckert D, Prasad SK, Walsh R, Ho CY, Cook SA, Ware JS, O’Regan DP.

Preprint, 2021

doi:10.1101/2021.01.21.21249470.

Patterns of within-host genetic diversity in SARS-CoV-2

Tonkin-Hill G, Martincorena I, Amato R, Lawson ARJ, Gerstung M, Johnston I, Jackson DK, Park NR, Lensing SV, Quail MA, Gonçalves S, Ariani C, Chapman MS, Hamilton WL, Meredith LW, Hall G, Jahun AS, Chaudhry Y, Hosmillo M, Pinckert ML, Georgana I, Yakovleva A, Caller LG, Caddy SL, Feltwell T, Khokhar FA, Houldcroft CJ, Curran MD, Parmar S, The COVID-19 Genomics UK (COG-UK) Consortium, Alderton A, Nelson R, Harrison E, Sillitoe J, Bentley SD, Barrett JC, Torok ME, Goodfellow IG, Langford C, Kwiatkowski D, Wellcome Sanger Institute COVID-19 Surveillance Team.

Preprint, 2020

doi:10.1101/2020.12.23.424229.

Extensive heterogeneity in somatic mutation and selection in the human bladder.

Lawson ARJ, Abascal F, Coorens THH, Hooks Y, O'Neill L, Latimer C, Raine K, Sanders MA, Warren AY, Mahbubani KTA, Bareham B, Butler TM, Harvey LMR, Cagan A, Menzies A, Moore L, Colquhoun AJ, Turner W, Thomas B, Gnanapragasam V, Williams N, Rassl DM, Vöhringer H, Zumalave S, Nangalia J, Tubío JMC, Gerstung M, Saeb-Parsy K, Stratton MR, Campbell PJ, Mitchell TJ, Martincorena I.

Science (New York, N.Y.), 2020

doi:10.1126/science.aba8347.

The evolutionary history of 2,658 cancers.

Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, Mitchell TJ, Rubanova Y, Anur P, Yu K, Tarabichi M, Deshwar A, Wintersinger J, Kleinheinz K, Vázquez-García I, Haase K, Jerman L, Sengupta S, Macintyre G, Malikic S, Donmez N, Livitz DG, Cmero M, Demeulemeester J, Schumacher S, Fan Y, Yao X, Lee J, Schlesner M, Boutros PC, Bowtell DD, Zhu H, Getz G, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Markowetz F, Mustonen V, Yuan K, Wang W, Morris QD, PCAWG Evolution & Heterogeneity Working Group, Spellman PT, Wedge DC, Van Loo P, PCAWG Consortium.

Nature, 2020

doi:10.1038/s41586-019-1907-7.

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis P, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies J, Semsarian C, Ingles J, O’Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJ, Bottolo L, Ware JS.

Preprint, 2020

doi:10.1101/2020.03.27.010736.

Genomic landscape and chronological reconstruction of driver events in multiple myeloma.

Maura F, Bolli N, Angelopoulos N, Dawson KJ, Leongamornlert D, Martincorena I, Mitchell TJ, Fullam A, Gonzalez S, Szalat R, Abascal F, Rodriguez-Martin B, Samur MK, Glodzik D, Roncador M, Fulciniti M, Tai YT, Minvielle S, Magrangeas F, Moreau P, Corradini P, Anderson KC, Tubio JMC, Wedge DC, Gerstung M, Avet-Loiseau H, Munshi N, Campbell PJ.

Nature communications, 2019

doi:10.1038/s41467-019-11680-1.

Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals

Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O’Donnell-Luria AH, Francioli LC, Genome Aggregation Database (gnomAD) Production Team, Alföldi J, Armean IM, Banks E, Bergelson L, Cibulskis K, Collins RL, Connolly KM, Covarrubias M, Cummings B, Daly MJ, Donnelly S, Farjoun Y, Ferriera S, Francioli L, Gabriel S, Gauthier LD, Gentry J, Gupta N, Jeandet T, Kaplan D, Karczewski KJ, Laricchia KM, Llanwarne C, Minikel EV, Munshi R, Neale BM, Novod S, O’Donnell-Luria AH, Petrillo N, Poterba T, Roazen D, Ruano-Rubio V, Saltzman A, Samocha KE, Schleicher M, Seed C, Solomonson M, Soto J, Tiao G, Tibbetts K, Tolonen C, Vittal C, Wade G, Wang A, Wang Q, Ware JS, Watts NA, Weisburd B, Whiffin N, Genome Aggregation Database (gnomAD) Consortium, Salinas CAA, Ahmad T, Albert CM, Ardissino D, Atzmon G, Barnard J, Beaugerie L, Benjamin EJ, Boehnke M, Bonnycastle LL, Bottinger EP, Bowden DW, Bown MJ, Chambers JC, Chan JC, Chasman D, Cho J, Chung MK, Cohen B, Correa A, Dabelea D, Daly MJ, Darbar D, Duggirala R, Dupuis J, Ellinor PT, Elosua R, Erdmann J, Esko T, Färkkilä M, Florez J, Franke A, Getz G, Glaser B, Glatt SJ, Goldstein D, Gonzalez C, Groop L, Haiman C, Hanis C, Harms M, Hiltunen M, Holi MM, Hultman CM, Kallela M, Kaprio J, Kathiresan S, Kim B, Kim YJ, Kirov G, Kooner J, Koskinen S, Krumholz HM, Kugathasan S, Kwak SH, Laakso M, Lehtimäki T, Loos RJ, Lubitz SA, Ma RC, MacArthur DG, Marrugat J, Mattila KM, McCarroll S, McCarthy MI, McGovern D, McPherson R, Meigs JB, Melander O, Metspalu A, Neale BM, Nilsson PM, O’Donovan MC, Ongur D, Orozco L, Owen MJ, Palmer CN, Palotie A, Park KS, Pato C, Pulver AE, Rahman N, Remes AM, Rioux JD, Ripatti S, Roden DM, Saleheen D, Salomaa V, Samani NJ, Scharf J, Schunkert H, Shoemaker MB, Sklar P, Soininen H, Soko H, Spector T, Sullivan PF, Suvisaari J, Tai ES, Teo YY, Tiinamaija T, Tsuang M, Turner D, Tusie-Luna T, Vartiainen E, Ware JS, Watkins H, Weersma RK, Wessman M, Wilson JG, Xavier RJ, Cook SA, Barton PJR, MacArthur DG, Ware JS.

Preprint, 2019

doi:10.1101/543504.

Neutral tumor evolution?

Tarabichi M, Martincorena I, Gerstung M, Leroi AM, Markowetz F, PCAWG Evolution and Heterogeneity Working Group, Spellman PT, Morris QD, Lingjærde OC, Wedge DC, Van Loo P.

Nature genetics, 2018

doi:10.1038/s41588-018-0258-x.

Classification and Personalized Prognosis in Myeloproliferative Neoplasms.

Grinfeld J, Nangalia J, Baxter EJ, Wedge DC, Angelopoulos N, Cantrill R, Godfrey AL, Papaemmanuil E, Gundem G, MacLean C, Cook J, O'Neil L, O'Meara S, Teague JW, Butler AP, Massie CE, Williams N, Nice FL, Andersen CL, Hasselbalch HC, Guglielmelli P, McMullin MF, Vannucchi AM, Harrison CN, Gerstung M, Green AR, Campbell PJ.

The New England journal of medicine, 2018

doi:10.1056/nejmoa1716614.

Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Maura F, Bolli N, Angelopoulos N, Dawson KJ, Leongamornlert D, Martincorena I, Mitchell TJ, Fullam A, Gonzalez S, Szalat R, Rodriguez-Martin B, Samur MK, Glodzik D, Roncador M, Fulciniti M, Tai YT, Minvielle S, Magrangeas F, Moreau P, Corradini P, Anderson KC, Tubio JMC, Wedge DC, Gerstung M, Avet-Loiseau H, Munshi N, Campbell PJ.

Preprint, 2018

doi:10.1101/388611.

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S, Collord G, Ng SWK, Weissbrod O, Mendelson Cohen N, Niemeyer E, Barda N, Zuzarte PC, Heisler L, Sundaravadanam Y, Luben R, Hayat S, Wang TT, Zhao Z, Cirlan I, Pugh TJ, Soave D, Ng K, Latimer C, Hardy C, Raine K, Jones D, Hoult D, Britten A, McPherson JD, Johansson M, Mbabaali F, Eagles J, Miller JK, Pasternack D, Timms L, Krzyzanowski P, Awadalla P, Costa R, Costa R, Segal E, Bratman SV, Beer P, Behjati S, Martincorena I, Wang JCY, Bowles KM, Quirós JR, Karakatsani A, La Vecchia C, Trichopoulou A, Salamanca-Fernández E, Huerta JM, Barricarte A, Travis RC, Tumino R, Masala G, Boeing H, Panico S, Kaaks R, Krämer A, Sieri S, Riboli E, Vineis P, Foll M, McKay J, Polidoro S, Sala N, Khaw KT, Vermeulen R, Campbell PJ, Papaemmanuil E, Minden MD, Tanay A, Balicer RD, Wareham NJ, Gerstung M, Dick JE, Brennan P, Vassiliou GS, Shlush LI.

Nature, 2018

doi:10.1038/s41586-018-0317-6.

Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes

Dentro SC, Leshchiner I, Haase K, Tarabichi M, Wintersinger J, Deshwar AG, Yu K, Rubanova Y, Macintyre G, Demeulemeester J, Vázquez-García I, Kleinheinz K, Livitz DG, Malikic S, Donmez N, Sengupta S, Anur P, Jolly C, Cmero M, Rosebrock D, Schumacher S, Fan Y, Fittall M, Drews RM, Yao X, Lee J, Schlesner M, Zhu H, Adams DJ, Getz G, Boutros PC, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Martincorena I, Markowetz F, Mustonen V, Yuan K, Gerstung M, Spellman PT, Wang W, Morris QD, Wedge DC, Van Loo P, on behalf of the PCAWG Evolution and Heterogeneity Working Groupthe PCAWG consortium, the PCAWG consortium.

Preprint, 2018

doi:10.1101/312041.

Genomic Evolution of Breast Cancer Metastasis and Relapse.

Yates LR, Knappskog S, Wedge D, Farmery JHR, Gonzalez S, Martincorena I, Alexandrov LB, Van Loo P, Haugland HK, Lilleng PK, Gundem G, Gerstung M, Pappaemmanuil E, Gazinska P, Bhosle SG, Jones D, Raine K, Mudie L, Latimer C, Sawyer E, Desmedt C, Sotiriou C, Stratton MR, Sieuwerts AM, Lynch AG, Martens JW, Richardson AL, Tutt A, Lønning PE, Campbell PJ.

Cancer cell, 2017

doi:10.1016/j.ccell.2017.07.005.

The evolutionary history of 2,658 cancers

Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, Mitchell TJ, Rubanova Y, Anur P, Yu K, Tarabichi M, Deshwar A, Wintersinger J, Kleinheinz K, Vázquez-García I, Haase K, Jerman L, Sengupta S, Macintyre G, Malikic S, Donmez N, Livitz DG, Cmero M, Demeulemeester J, Schumacher S, Fan Y, Yao X, Lee J, Schlesner M, Boutros PC, Bowtell DD, Zhu H, Getz G, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Markowetz F, Mustonen V, Yuan K, Wang W, Morris QD, Spellman PT, Wedge DC, Loo PV, on behalf of the PCAWG Evolution and Heterogeneity Working Group, the PCAWG network.

Preprint, 2017

doi:10.1101/161562.

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.

Ju YS, Martincorena I, Gerstung M, Petljak M, Alexandrov LB, Rahbari R, Wedge DC, Davies HR, Ramakrishna M, Fullam A, Martin S, Alder C, Patel N, Gamble S, O'Meara S, Giri DD, Sauer T, Pinder SE, Purdie CA, Borg Å, Stunnenberg H, van de Vijver M, Tan BK, Caldas C, Tutt A, Ueno NT, van 't Veer LJ, Martens JW, Sotiriou C, Knappskog S, Span PN, Lakhani SR, Eyfjörd JE, Børresen-Dale AL, Richardson A, Thompson AM, Viari A, Hurles ME, Nik-Zainal S, Campbell PJ, Stratton MR.

Nature, 2017

doi:10.1038/nature21703.

Genomic Classification and Prognosis in Acute Myeloid Leukemia.

Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, Potter NE, Heuser M, Thol F, Bolli N, Gundem G, Van Loo P, Martincorena I, Ganly P, Mudie L, McLaren S, O'Meara S, Raine K, Jones DR, Teague JW, Butler AP, Greaves MF, Ganser A, Döhner K, Schlenk RF, Döhner H, Campbell PJ.

The New England journal of medicine, 2016

doi:10.1056/nejmoa1516192.

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, Smid M, Brinkman AB, Morganella S, Aure MR, Lingjærde OC, Langerød A, Ringnér M, Ahn SM, Boyault S, Brock JE, Broeks A, Butler A, Desmedt C, Dirix L, Dronov S, Fatima A, Foekens JA, Gerstung M, Hooijer GK, Jang SJ, Jones DR, Kim HY, King TA, Krishnamurthy S, Lee HJ, Lee JY, Li Y, McLaren S, Menzies A, Mustonen V, O'Meara S, Pauporté I, Pivot X, Purdie CA, Raine K, Ramakrishnan K, Rodríguez-González FG, Romieu G, Sieuwerts AM, Simpson PT, Shepherd R, Stebbings L, Stefansson OA, Teague J, Tommasi S, Treilleux I, Van den Eynden GG, Vermeulen P, Vincent-Salomon A, Yates L, Caldas C, van't Veer L, Tutt A, Knappskog S, Tan BK, Jonkers J, Borg Å, Ueno NT, Sotiriou C, Viari A, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, Børresen-Dale AL, Richardson AL, Kong G, Thomas G, Stratton MR.

Nature, 2016

doi:10.1038/nature17676.

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