the Center for Genomics, Evolution and Medicine

Risultati finali

Research Strategy: cGEM 2025

A longterm research strategy for cGEM provided by ERA Chair holder and the team in cohesion with cGEM staff

Long-Term Research Strategy: cGEM 2035

Project website and visual identity package

A comprehensive project website about the objectives, progress and achievements (including Open Access publications), involved research groups, and events (summer schools, conferences and courses) will be established along with visual identity

Pubblicazioni

Phylogenetic History of Patrilineages Rare in Northern and Eastern Europe from Large-Scale Re-Sequencing of Human Y-Chromosomes

Autori: Ilumäe, Anne-Mai, Helen Post, Rodrigo Flores, Monika Karmin, Hovhannes Sahakyan, Mayukh Mondal, Francesco Montinaro, Lauri Saag, Concetta Bormans, and Luisa Fernanda Sanchez
Pubblicato in: European Journal of Human Genetics, Numero 29, no 10, 2021, Pagina/e 1510-19, ISSN 1018-4813
Editore: Natue Publishing Group
DOI: 10.1038/s41431-021-00897-8

A Chromosome-Painting-Based Pipeline to Infer Local Ancestry under Limited Source Availability

Autori: Molinaro, Ludovica, Davide Marnetto, Mayukh Mondal, Linda Ongaro, Burak Yelmen, Daniel John Lawson, Francesco Montinaro, and Luca Pagani
Pubblicato in: Genome Biology and Evolution, Numero 13, no 4, 2021, Pagina/e evab025, ISSN 1759-6653
Editore: Oxford University Press
DOI: 10.1093/gbe/evab025

Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution?

Autori: Evan K. Irving-Pease, Rasa Muktupavela, Michael Dannemann, Fernando Racimo
Pubblicato in: Frontiers in Genetics, Numero 12, 2021, ISSN 1664-8021
Editore: Frontiers Media
DOI: 10.3389/fgene.2021.703541

Genetic architecture of gene regulation in Indonesian populations identies QTLs associated with local ancestry and archaic introgression!

Autori: Heini M Natri, Georgi Hudjashov, Guy Jacobs, Pradiptajati Kusuma, Lauri Saag, Chelzie Crenna Darusallam, Mait Metspalu, Herawati Sudoyo, Murray P Cox*, Irene Gallego Romero*, Nicholas E Banovich*
Pubblicato in: American Journal of Human Genetics, Numero 109 (1), 2022, Pagina/e 50-65, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.11.017

Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection

Autori: Pankratov, Vasili; Yunusbaeva, Milyausha; Ryakhovsky, Sergei; Zarodniuk, Maksym; Metspalu, Andres; Nelis, Mari; Milani, Lili; Magi, Reedik; Esko, Tonu; Yunusbayev, Bayazit
Pubblicato in: Nature Communications, Numero 13 (1), 2022, Pagina/e ARTN 7069, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-022-34461-9

Revisiting the out of Africa event with a deep-learning approach

Autori: Francesco Montinaro; Francesco Montinaro; Vasili Pankratov; Burak Yelmen; Burak Yelmen; Luca Pagani; Luca Pagani; Mayukh Mondal
Pubblicato in: The American Journal of Human Genetics, Numero 108, no 11, 2021, Pagina/e 2037-51, ISSN 1537-6605
Editore: Cell Press
DOI: 10.1016/j.ajhg.2021.09.006

The Population-Specific Impact of Neandertal Introgression on Human Disease

Autori: Michael Dannemann
Pubblicato in: Genome Biology and Evolution, Numero 13/1, 2021, ISSN 1759-6653
Editore: Oxford University Press
DOI: 10.1093/gbe/evaa250

Long-range regulatory effects of Neandertal DNA in modern humans

Autori: Danat Yermakovich, Vasili Pankratov, Urmo Võsa, Bayazit Yunusbayev, Estonian Biobank Research Team, Michael Dannemann
Pubblicato in: Genetics, Numero 223 (3), 2023, Pagina/e iyac188, ISSN 1943-2631
Editore: Oxford Academic Press
DOI: 10.1093/genetics/iyac188

Genome-wide association study of obstructive sleep apnoea in the Million Veteran Program uncovers genetic heterogeneity by sex

Autori: Tamar Sofer; Nuzulul Kurniansyah; Michael Murray; Yuk-Lam Ho; Erik Abner; Tõnu Esko; Jennifer E. Huffman; Kelly Cho; Peter W.F. Wilson; Daniel J. Gottlieb; Andres Metspalu; Lili Milani; Tõnu Esko; Reedik Mägi; Mari Nelis; Georgi Hudjashov
Pubblicato in: eBioMedicine, Numero 3, 2023, ISSN 2352-3964
Editore: Elsevier BV
DOI: 10.1016/j.ebiom.2023.104536

Differences in local population history at the finest level: the case of the Estonian population

Autori: Vasili Pankratov, Francesco Montinaro, Alena Kushniarevich, Georgi Hudjashov, Flora Jay, Lauri Saag, Rodrigo Flores, Davide Marnetto, Marten Seppel, Mart Kals, Urmo Võsa, Cristian Taccioli, Märt Möls, Lili Milani, Anto Aasa, Daniel John Lawson, Tõnu Esko, Reedik Mägi, Luca Pagani, Andres Metspalu, Mait Metspalu
Pubblicato in: European Journal of Human Genetics, Numero 28 (11), 2020, Pagina/e 1580-1591, ISSN 1018-4813
Editore: Natue Publishing Group
DOI: 10.1038/s41431-020-0699-4

The genetic legacy of the expansion of Bantu-speaking peoples in Africa

Autori: Cesar A. Fortes-Lima, Concetta Burgarella, Rickard Hammarén, Anders Eriksson, Mário Vicente, Cecile Jolly, Armando Semo, Hilde Gunnink, Sara Pacchiarotti, Leon Mundeke, Igor Matonda, Joseph Koni Muluwa, Peter Coutros, Terry S. Nyambe, Justin Cirhuza Cikomola, Vinet Coetzee, Minique de Castro, Peter Ebbesen, Joris Delanghe, Mark Stoneking, Lawrence Barham, Marlize Lombard, Anja Meyer, Maryna Stey
Pubblicato in: Nature, Numero 625, 2023, Pagina/e 540-547, ISSN 0028-0836
Editore: Nature Publishing Group
DOI: 10.1038/s41586-023-06770-6

Chronology of Natural Selection in Oceanian Genomes

Autori: Brucato, Nicolas, Mathilde André, Georgi Hudjashov, Mayukh Mondal, Murray P. Cox, Matthew Leavesley, and François-Xavier Ricaut
Pubblicato in: IScience, Numero 25, no 7, 2022, Pagina/e 104583, ISSN 2589-0042
Editore: Cell press
DOI: 10.1016/j.isci.2022.104583

Improving Selection Detection with Population Branch Statistic on Admixed Populations

Autori: Yelmen, Burak, Davide Marnetto, Ludovica Molinaro, Rodrigo Flores, Mayukh Mondal, and Luca Pagani
Pubblicato in: Genome Biology and Evolution, Numero 13, no 4, 2021, Pagina/e evab039, ISSN 1759-6653
Editore: Oxford University Press
DOI: 10.1093/gbe/evab039

Ancestral Genomic Contributions to Complex Traits in Contemporary Europeans

Autori: Davide Marnetto, Vasili Pankratov, Mayukh Mondal, Francesco Montinaro, Katri Pärna, Leonardo Vallini, Ludovica Molinaro, Lehti Saag, Liisa Loog, Sara Montagnese, Rodolfo Costa; Estonian Biobank Research Team; Mait Metspalu, Anders Eriksson, Luca Pagani
Pubblicato in: Current Biology, Numero 32, no 6, 2022, Pagina/e 1412-19, ISSN 0960-9822
Editore: Cell Press
DOI: 10.1016/j.cub.2022.01.046

Neandertal introgression partitions the genetic landscape of neuropsychiatric disorders and associated behavioral phenotypes

Autori: Michael Dannemann, Yuri Milaneschi, Danat Yermakovich, Victoria Stiglbauer, Hanna Maria Kariis, Kristi Krebs, Manuel A Friese, Christian Otte, Estonian Biobank Research Team, Kelli Lehto, Brenda WJH Penninx, Janet Kelso, Stefan M Gold
Pubblicato in: Translational Psychiatry, Numero 12, 2022, Pagina/e no 433, ISSN 2158-3188
Editore: Nature Publishing Group
DOI: 10.1038/s41398-022-02196-2

Climatic windows for human migration out of Africa in the past 300,000 years

Autori: Robert M Beyer, Mario Krapp, Anders Eriksson, Andrea Manica
Pubblicato in: Nature Communications, Numero 12 (1), 2022, Pagina/e 4889, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-021-24779-1

Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes

Autori: Jayant Mahadevan; Ajai Kumar Pathak; Alekhya Vemula; Ravi Kumar Nadella; Biju Viswanath; Sanjeev Jain; Accelerator Program for Discovery in Brain disorders using Stem cells (ADBS) Consortium; Meera Purushottam; Mayukh Mondal
Pubblicato in: Scientific Reports, Numero Volume 11, 2021, Pagina/e Article number: 21088, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-021-00123-x

Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas.

Autori: Linda Ongaro; Mayukh Mondal; Rodrigo Flores; Davide Marnetto; Ludovica Molinaro; Marta E. Alarcón-Riquelme; Andrés Moreno-Estrada; Nédio Mabunda; Mario Ventura; Kristiina Tambets; Garrett Hellenthal; Cristian Capelli; Cristian Capelli; Toomas Kivisild; Mait Metspalu; Luca Pagani; Luca Pagani; Francesco Montinaro; Francesco Montinaro
Pubblicato in: Human Molecular Genetics, Numero 30, no. 22, 2021, Pagina/e 2123–34, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddab177

Detection of Neanderthal Adaptively Introgressed Genetic Variants that Modulate Reporter Gene Expression in Human Immune Cells

Autori: Evelyn Jagoda, James R Xue, Steven K Reilly, Michael Dannemann, Fernando Racimo, Emilia Huerta-Sanchez, Sriram Sankararaman, Janet Kelso, Luca Pagani, Pardis C Sabeti, Terence D Capellini
Pubblicato in: Molecular Biology and Evolution, 2021, ISSN 0737-4038
Editore: Oxford University Press
DOI: 10.1093/molbev/msab304

Using fecal immunochemical tubes for the analysis of the gut microbiome has the potential to improve colorectal cancer screening

Autori: Kertu Liis Krigul, Oliver Aasmets, Kreete Lüll, Tõnis Org, Elin Org
Pubblicato in: Scientific Reports, Numero 11, 2021, Pagina/e 19603, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-021-99046-w

HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases

Autori: Guillaume Butler-Laporte, Joseph Farjoun, Tomoko Nakanishi, Tianyuan Lu, Erik Abner, Yiheng Chen, Michael Hultström, Andres Metspalu, Lili Milani, Reedik Mägi, Mari Nelis, Georgi Hudjashov, Estonian Biobank Research Team, Satoshi Yoshiji, Yann Ilboudo, Kevin Y. H. Liang, Chen-Yang Su, Julian D. S. Willet, Tõnu Esko, Sirui Zhou, Vincenzo Forgetta, Daniel Taliun & J. Brent Richards
Pubblicato in: Communications Biology, Numero 6 (1113), 2023, ISSN 2399-3642
Editore: Springer Nature
DOI: 10.1038/s42003-023-05496-5

Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul

Autori: Brucato, Nicolas, Mathilde André, Roxanne Tsang, Lauri Saag, Jason Kariwiga, Kylie Sesuki, Teppsy Beni, William Pomat, John Muke, and Vincent Meyer
Pubblicato in: Molecular Biology and Evolution, Numero 38, no 11, 2021, Pagina/e 5107-21, ISSN 1537-1719
Editore: Oxford University Press
DOI: 10.1093/molbev/msab238

Harnessing pluripotent stem cells as models to decipher human evolution

Autori: Michael Dannemann, Irene Gallego Romero
Pubblicato in: The FEBS Journal, 2021, ISSN 1742-464X
Editore: Blackwell Publishing Inc.
DOI: 10.1111/febs.15885

Effect of RNA m6A methyltransferase activation by a low molecular weight compound on anxiety- and depression-related behaviours, monoamine neurochemistry and striatal gene expression in the rat

Autori: Margus Kanarik, Kristi Liiver, Marianna Školnaja, Indrek Teino, Tõnis Org, Karita Laugus, Ruth Shimmo, Mati Karelson, Mart Saarma, Jaanus Harro
Pubblicato in: bioRxiv, Numero preprint, 2024, ISSN 2692-8205
Editore: Cold Sping Harbour Laboratory
DOI: 10.1101/2024.01.08.574593

HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank

Autori: Guillaume Butler-Laporte, Joseph Farjoun, Tomoko Nakanishi, Tianyuan Lu, Erik Abner, Yiheng Chen, Michael Hultström, Andres Metspalu, Lili Milani, Reedik Mägi, Mari Nelis, Georgi Hudjashov, Estonian Biobank Research Team, Satoshi Yoshiji, Yann Ilboudo, Kevin YH Liang, Chen-Yang Su, Julian DS Willet, Tõnu Esko, Sirui Zhou, Vincenzo Forgetta, Daniel Taliun, J Brent Richards
Pubblicato in: medRxiv, Numero preprint, 2023
Editore: Cold Spring Harbour Laboratory
DOI: 10.1101/2023.01.15.23284570

Denisovan admixture facilitated environmental adaptation in Papua New Guinean populations

Autori: Danat Yermakovich, Mathilde André, Nicolas Brucato, Jason Kariwiga, Matthew Leavesley, Vasili Pankratov, Mayukh Mondal, François-Xavier Ricaut, Michael Dannemann
Pubblicato in: bioRxiv, Numero prerpint, 2024, ISSN 2692-8205
Editore: Gold Spring Harbour Laboratory
DOI: 10.1101/2024.01.14.575483

Assessing the impact of 20th century internal migrations on the genetic structure of Estonia

Autori: Ivan A. Kuznetsov, Estonian Biobank Research Team, Mait Metspalu, Uku Vainik, Luca Pagani, Francesco Montinaro, Vasili Pankratov
Pubblicato in: bioRxiv, Numero prerpint, 2023
Editore: Cold Spring Harbour Laboratory
DOI: 10.1101/2023.10.25.564036

Cell atlas of the regenerating human liver after portal vein embolization

Autori: Agnieska Brazovskaja, Tomás Gomes, Christiane Körner, Zhisong He, Theresa Schaffer, Julian Connor Eckel, René Hänsel, Malgorzata Santel, Timm Denecke, Michael Dannemann, Mario Brosch, Jochen Hampe, Daniel Seehofer, Georg Damm, J Gray Camp, Barbara Treutlein
Pubblicato in: bioRxiv, Numero preprint, 2022, Pagina/e 2021.06. 03.444016, ISSN 2692-8205
Editore: Gold Spring Harbor Laboratory
DOI: 10.1101/2021.06.03.444016

Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels

Autori: Mathilde Andre, Nicolas Brucato, Georgi Hudjasov, Vasili Pankratov, Danat Yermakovich, Rita Kreevan, Jason Kariwiga, John Muke, Anne Boland, Jean-Francois Deleuze, Vincent Meyer, Nicholas Evans, Murray P Cox, Matthew Leavesley, Michael Dannemann, Tonis Org, Mait Metspalu, Mayukh Mondal, Francois-Xavier Ricaut
Pubblicato in: bioRxiv, Numero preprint, 2022, ISSN 2692-8205
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2022.12.15.520226

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