Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios

Autor: Matey-Hernandez, María Luisa, Maretty, Lasse, Jensen, Jacob Malte, Petersen, Bent, Andreas Sibbesen, Jonas, Liu, Siyang, Villesen, Palle, Skov, Laurits, Belling, Kirstine, Theil Have, Christian, Gonzalez-Izarzugaza, Jose Maria, Grosjean, Marie, Bork-Jensen, Jette, Grove, Jakob, Als, Thomas D., Huang, Shujia, Chang, Yuqi, Xu, Ruiqi, Ye, Weijian, Rao, Junhua, Guo, Xiaosen, Sun, Jihua, Cao, Hongzhi, Ye, Chen, Beusekom, Johan v., Espeseth, Thomas, Flindt, Esben N., Friborg, Rune M., Halager, Anders Egerup, Le Hellard, Stephanie, Hultman, Christina M., Lescai, Francesco, Li, Shengting, Lund, Ole, Løngren, Peter, Mailund, Thomas, Mors, Ole, Pedersen, Christian N. S., Sicheritz-Pontén, Thomas, Sullivan, Patrick F., Ali , Syed, Westergaard, David, Yadav, Rachita, Li, Ning, Xu, Xun, Hansen, Torben, Krogh, Anders, Bolund, Lars, Sørensen, Thorkild I. A., Pedersen, Oluf, Gupta, Ramneek, Besenbacher, Søren, Børglum, Anders D., Wang, Jun, Eiberg, Hans, Kristiansen, Karsten, Brunak, Søren, Schierup, Mikkel Heide, Izarzugaza, Jose M. G.

Publikováno v: Matey-Hernandez, M L, Brunak, S, Izarzugaza, J M G & Danish Pan-Genome Consortium (Jakob Grove, member of-) 2018, ' Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios ', BMC Bioinformatics, vol. 19, no. 1, 239 . https://doi.org/10.1186/s12859-018-2239-6
BMC Bioinformatics
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-12 (2018)
Matey-Hernandez, M L, Danish Pan Genome Consortium, Brunak, S, Izarzugaza, J M G, Sørensen, L M, Petersen, B, Sibbesen, J A, Liu, S, Belling, K G, Have, C T, Bork-Jensen, J, Sun, J, Hansen, T, Krogh, A, Sørensen, T I A, Pedersen, O B, Wang, J, Eiberg, H R L & Kristiansen, K 2018, ' Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios ', BMC Bioinformatics, vol. 19, 239, pp. 1-12 . https://doi.org/10.1186/s12859-018-2239-6
Matey-Hernandez, M L, Maretty, L, Jensen, J M, Petersen, B, Andreas Sibbesen, J, Liu, S, Villesen, P, Skov, L, Belling, K, Theil Have, C, Gonzalez-Izarzugaza, J M, Grosjean, M, Bork-Jensen, J, Grove, J, Als, T D, Huang, S, Chang, Y, Xu, R, Ye, W, Rao, J, Guo, X, Sun, J, Cao, H, Ye, C, Beusekom, J V, Espeseth, T, Flindt, E N, Friborg, R M, Halager, A E, Le Hellard, S, Hultman, C M, Lescai, F, Li, S, Lund, O, Løngren, P, Mailund, T, Matey-Hernandez, M L, Mors, O, Pedersen, C N S, Sicheritz-Pontén, T, Sullivan, P F, Ali, S, Westergaard, D, Yadav, R, Li, N, Xu, X, Hansen, T, Krogh, A, Bolund, L, Sørensen, T I A, Pedersen, O, Gupta, R, Besenbacher, S, Børglum, A D, Wang, J, Eiberg, H, Kristiansen, K, Brunak, S, Schierup, M H, Brunak, S & Izarzugaza, J M G 2018, ' Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios ', B M C Bioinformatics, vol. 19, 239 . https://doi.org/10.1186/s12859-018-2239-6

BACKGROUND: The adaptive immune response intrinsically depends on hypervariable human leukocyte antigen (HLA) genes. Concomitantly, correct HLA phenotyping is crucial for successful donor-patient matching in organ transplantation. The cost and techni

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https://pure.au.dk/portal/da/publications/benchmarking-the-hla-typing-performance-of-polysolver-and-optitype-in-50-danish-parental-trios(9f5f8b9c-9a42-4c01-9907-20fd5dfec8bb).html

Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale

Autor: Liu, Siyang, Huang, Shujia, Rao, Junhua, Ye, Weijian, Schierup, Mikkel H., Villesen, Palle, Xu, Xun, Li, Ning, Kristiansen, Karsten, Sørensen, Thorkild I. A., Hansen, Torben, Pedersen, Oluf, Brunak, Søren, Gupta, Ramneek, Rasmussen, Simon, Lund, Ole, Bolund, Lars, Børglum, Anders D., Eiberg, Hans, Nørgaard Flindt, Esben, Xu, Ruiqi, Sun, Jihua, Liu, Hao, Jiang, Hui, Wang, Ou, Cheng, Xiaofang, Demontis, Ditte, Besenbacher, Søren, Mailund, Thomas, Friborg, Rune M., Pedersen, Christian N. S., Chang, Yuqi, Li, Shengting, Guo, Xiaosen, Cao, Hongzhi, Ye, Chen, Maretty, Lasse, Andreas Sibbesen, Jonas, Albrechtsen, Anders, Bork-Jensen, Jette, Theil Have, Christian, Gonzalez-Izarzugaza, Jose Maria, Belling, Kirstine González-Izarzugaza, Yadav, Rachita, Grove, Jakob, Dam-Als, Thomas, Lescai, Francesco, Krogh, Anders, Wang, Jun

Publikováno v: Liu, S, Huang, S, Rao, J, Ye, W, Schierup, M H, Villesen, P, Xu, X, Li, N, Kristiansen, K, Sørensen, T I A, Hansen, T, Pedersen, O, Brunak, S, Gupta, R, Rasmussen, S, Lund, O, Bolund, L, Børglum, A D, Eiberg, H, Nørgaard Flindt, E, Xu, R, Sun, J, Liu, H, Jiang, H, Wang, O, Cheng, X, Demontis, D, Besenbacher, S, Mailund, T, Friborg, R M, Pedersen, C N S, Liu, S, Chang, Y, Li, S, Guo, X, Cao, H, Ye, C, Maretty, L, Andreas Sibbesen, J, Albrechtsen, A, Bork-Jensen, J, Theil Have, C, Gonzalez-Izarzugaza, J M, Belling, K G-I, Yadav, R, Grove, J, Dam-Als, T, Lescai, F, Krogh, A & Wang, J 2015, ' Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale ', GigaScience, vol. 4, no. 64 . https://doi.org/10.1186/s13742-015-0103-4
GigaScience
Liu, S, Huang, S, Rao, J, Ye, W, Genome Denmark Consortium (Anders Børglum, member of-), Krogh, A & Wang, J 2015, ' Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale ', GigaScience, vol. 4, pp. 64 . https://doi.org/10.1186/s13742-015-0103-4
Danish Pan Genome Consortium, Belling, K G & Rasmussen, S 2015, ' Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale ', GigaScience, vol. 4, 64 . https://doi.org/10.1186/s13742-015-0103-4

Background Comprehensive recognition of genomic variation in one individual is important for understanding disease and developing personalized medication and treatment. Many tools based on DNA re-sequencing exist for identification of single nucleoti

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https://orbit.dtu.dk/en/publications/c4dae3e6-00da-4741-96e1-4a17d7417944