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2024
Mark A genomic mutational constraint map using variation in 76,156 human genomes
Chen, S. ; Groop, L. ^LU ; Melander, O. ^LU ; Nilsson, P.M. ^LU ; Smith, J. Gustav ^LU ; MacArthur, D.G. and Karczewski, K.J. (2024) In Nature 625(7993). p.92-100
- Contribution to journal › Article
2022
Mark Rare germline copy number variants (CNVs) and breast cancer risk
Dennis, Joe ; Olsson, H. ^LU and Easton, Douglas F. (2022) In Communications Biology 5(1).
- Contribution to journal › Article
2021
Mark Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Chia, Ruth ; Londos, Elisabet ^LU and Scholz, S.W. (2021) In Nature Genetics 53(3). p.294-303
- Contribution to journal › Article
Mark The trans-ancestral genomic architecture of glycemic traits
Chen, J. ; Lyssenko, Valeriya ^LU ; Franks, Paul ^LU ; Elmståhl, Sölve ^LU ; Groop, Leif ^LU and van Duijn, C. (2021) In Nature Genetics 53(6). p.840-860
- Contribution to journal › Article
Mark Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
Aguiar-Pulido, Vanessa ; Wolujewicz, Paul ; Martinez-Fundichely, Alexander ; Elhaik, Eran ^LU ; Thareja, Gaurav ; Abdel Aleem, Alice ; Chalhoub, Nader ; Cuykendall, Tawny ; Al-Zamer, Jamel and Lei, Yunping , et al. (2021) In Proceedings of the National Academy of Sciences of the United States of America 118(51).
- Contribution to journal › Article
Mark No evidence of human genome integration of SARS-CoV-2 found by long-read DNA sequencing
Smits, Nathan ; Rasmussen, Jay ; Bodea, Gabriela O ; Amarilla, Alberto A ; Gerdes, Patricia ^LU ; Sanchez-Luque, Francisco J ; Ajjikuttira, Prabha ; Modhiran, Naphak ; Liang, Benjamin and Faivre, Jamila , et al. (2021) In Cell Reports 36(7). p.1-8
- Contribution to journal › Article
2020
Mark Genomic footprints of activated telomere maintenance mechanisms in cancer
Sieverling, Lina ; Hong, Chen ; Koser, Sandra D ; Ginsbach, Philip ; Kleinheinz, Kortine ; Hutter, Barbara ; Braun, Delia M ; Cortés-Ciriano, Isidro ; Xi, Ruibin and Kabbe, Rolf , et al. (2020) In Nature Communications 11.
- Contribution to journal › Article
Mark Combined burden and functional impact tests for cancer driver discovery using DriverPower
Shuai, Shimin ; Gallinger, Steven and Stein, Lincoln D (2020) In Nature Communications 11. p.734-734
- Contribution to journal › Article
Mark Divergent mutational processes distinguish hypoxic and normoxic tumours
Bhandari, Vinayak ; Li, Constance H ; Bristow, Robert G and Boutros, Paul C (2020) In Nature Communications 11.
- Contribution to journal › Article
Mark Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
Rubanova, Yulia ; Shi, Ruian ; Harrigan, Caitlin F ; Li, Roujia ; Wintersinger, Jeff ; Sahin, Nil ; Deshwar, Amit G and Morris, Quaid D (2020) In Nature Communications 11.
- Contribution to journal › Article

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