Genetic mapping of cell type specificity for complex traits

Autor: Kyoko Watanabe, Maša Umićević Mirkov, Christiaan A. de Leeuw, Martijn P. van den Heuvel, Danielle Posthuma

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)

Tissue- and cell type-specific information helps to interpret findings from genome-wide association studies. Here, the authors leverage multiple single cell expression datasets to infer cell type specificity of traits.

Externí odkaz: https://doaj.org/article/1b79e2c2d7734c8abaf4baac708ba480

Influence of autozygosity on common disease risk across the phenotypic spectrum

Autor: Malawsky, Daniel S., van Walree, Eva, Jacobs, Benjamin M., Heng, Teng Hiang, Huang, Qin Qin, Sabir, Ataf H., Rahman, Saadia, Sharif, Saghira Malik, Khan, Ahsan, Mirkov, Maša Umićević, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S., Posthuma, Danielle, Newman, William G., Griffiths, Christopher J., Mathur, Rohini, van Heel, David A., Finer, Sarah, O’Connell, Jared, Martin, Hilary C.

Publikováno v: In Cell 12 October 2023 186(21):4514-4527

Author Correction: Genetic mapping of cell type specificity for complex traits

Autor: Christiaan de Leeuw, Martijn P. van den Heuvel, Danielle Posthuma, Maša Umićević Mirkov, Kyoko Watanabe

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature Communications, 11(1):1718, 1-11. Nature Publishing Group
Watanabe, K, Mirkov, M U, de Leeuw, C A, van den Heuvel, M P & Posthuma, D 2020, ' Author Correction: Genetic mapping of cell type specificity for complex traits ', Nature Communications, vol. 11, no. 1, 1718, pp. 1-11 . https://doi.org/10.1038/s41467-020-15365-y

The original version of this Article contained an error in Fig. 5 and Supplementary Fig. 12, in which the colours of the bar plots at the top of the heatmaps were incorrectly given, leading to incorrect mapping of the plots to the corresponding datas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561f10e786927f0fc1692e5d20ece8e7
https://doaj.org/article/fe7381dd983748ba85fb994a1fc9815f

Genetic mapping of cell type specificity for complex traits

Autor: Danielle Posthuma, Christiaan de Leeuw, Martijn P. van den Heuvel, Maša Umićević Mirkov, Kyoko Watanabe

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications
Watanabe, K, Umićević Mirkov, M, de Leeuw, C A, van den Heuvel, M P & Posthuma, D 2019, ' Genetic mapping of cell type specificity for complex traits ', Nature Communications, vol. 10, no. 1, 3222 . https://doi.org/10.1038/s41467-019-11181-1
Nature Communications, 10(1):3222. Nature Publishing Group

Single-cell RNA sequencing (scRNA-seq) data allows to create cell type specific transcriptome profiles. Such profiles can be aligned with genome-wide association studies (GWASs) to implicate cell type specificity of the traits. Current methods typica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2d5174770b8ca00b8078f0387d1aa0
https://doaj.org/article/1b79e2c2d7734c8abaf4baac708ba480

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Autor: Matthew E. Hurles, Danielle Posthuma, Anna Wilsdon, Alex V. Postma, Inge B. Mathijssen, Dianna M. Milewicz, Alessandra Maugeri, Quinten Waisfisz, Aho Ilgun, Jeanne E. Savage, Marc Philip Hitz, Iris E. Jansen, Enrique Audain Martinez, Frances A. Bu'Lock, Felix Berger, Vincent M. Christoffels, Ahmed S. Amin, Rob Zwart, Maša Umićević Mirkov, Gregor Dombrowsky, Hanne Meijers-Heijboer, Eva S. van Walree, Allard C. van der Wal, S. A. Clur, Sven Dittrich, Dongchuan Guo

Publikováno v: van Walree, E S, Dombrowsky, G, Jansen, I E, Umićević Mirkov, M, Zwart, R, Ilgun, A, Guo, D, Clur, S-A B, Amin, A S, Savage, J E, van der Wal, A C, Waisfisz, Q, Maugeri, A, Wilsdon, A, Bu'Lock, F A, Hurles, M E, Dittrich, S, Berger, F, Audain Martinez, E, Christoffels, V M, Hitz, M-P, Milewicz, D M, Posthuma, D, Meijers-Heijboer, H, Postma, A V & Mathijssen, I B 2022, ' Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms ', Genetics in Medicine, vol. 24, no. 4, pp. 965-965 . https://doi.org/10.1016/j.gim.2022.01.018
van Walree, E S, Dombrowsky, G, Jansen, I E, Mirkov, M U, Zwart, R, Ilgun, A, Guo, D, Clur, S-A B, Amin, A S, Savage, J E, van der Wal, A C, Waisfisz, Q, Maugeri, A, Wilsdon, A, Bu’Lock, F A, Hurles, M E, Dittrich, S, Berger, F, Audain Martinez, E, Christoffels, V M, Hitz, M-P, Milewicz, D M, Posthuma, D, Meijers-Heijboer, H, Postma, A V & Mathijssen, I B 2021, ' Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms ', Genetics in Medicine, vol. 23, no. 1, pp. 103-110 . https://doi.org/10.1038/s41436-020-00939-4
Genetics in Medicine, 24(4), 965-965. Lippincott Williams and Wilkins
Genetics in medicine, 23(1), 103-110. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 23(1), 103-110. Lippincott Williams and Wilkins
van Walree, E S, Dombrowsky, G, Jansen, I E, Mirkov, M U, Zwart, R, Ilgun, A, Guo, D, Clur, S A B, Amin, A S, Savage, J E, van der Wal, A C, Waisfisz, Q, Maugeri, A, Wilsdon, A, Bu’Lock, F A, Hurles, M E, Dittrich, S, Berger, F, Audain Martinez, E, Christoffels, V M, Hitz, M P, Milewicz, D M, Posthuma, D, Meijers-Heijboer, H, Postma, A V & Mathijssen, I B 2021, ' Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms ', Genetics in Medicine, vol. 23, no. 1, pp. 103-110 . https://doi.org/10.1038/s41436-020-00939-4

Purpose: In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share a common ancestor in 1728. Methods: Trio genome sequencing w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94e70ebb27233dcd36e4b2d2aaa60b5
https://doi.org/10.1016/j.gim.2022.01.018