Integrated genome sizing (IGS) approach for the parallelization of whole genome analysis

Autor: Peter Sona, Jong Hui Hong, Sunho Lee, Byong Joon Kim, Woon-Young Hong, Jongcheol Jung, Han-Na Kim, Hyung-Lae Kim, David Christopher, Laurent Herviou, Young Hwan Im, Kwee-Yum Lee, Tae Soon Kim, Jongsun Jung

Publikováno v: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-10 (2018)

Abstract Background The use of whole genome sequence has increased recently with rapid progression of next-generation sequencing (NGS) technologies. However, storing raw sequence reads to perform large-scale genome analysis pose hardware challenges.

Externí odkaz: https://doaj.org/article/284d3d8dd1654d3d825d001b9349b0e4

HLAscan: genotyping of the HLA region using next-generation sequencing data

Autor: Sojeong Ka, Sunho Lee, Jonghee Hong, Yangrae Cho, Joohon Sung, Han-Na Kim, Hyung-Lae Kim, Jongsun Jung

Publikováno v: BMC Bioinformatics, Vol 18, Iss 1, Pp 1-11 (2017)

Abstract Background Several recent studies showed that next-generation sequencing (NGS)-based human leukocyte antigen (HLA) typing is a feasible and promising technique for variant calling of highly polymorphic regions. To date, however, no method wi

Externí odkaz: https://doaj.org/article/ac2d0d2c1ed943a9bbafe86b2d316bda

RDscan: A New Method for Improving Germline and Somatic Variant Calling Based on Read Depth Distribution

Autor: Sunho Lee, Seokchol Hong, Jonathan Woo, Jae-hak Lee, Kyunghee Kim, Lucia Kim, Kunsoo Park, Jongsun Jung

Publikováno v: Journal of Computational Biology. 29:987-1000

Several tools have been developed for calling variants from next-generation sequencing (NGS) data. Although they are generally accurate and reliable, most of them have room for improvement, especially regarding calling variants in datasets with low r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf74ce30292662c648ff9487e6dbf36c
https://doi.org/10.1089/cmb.2021.0269

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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Zechen, Chong, Oliver, Drechsel, Lewis Jonathan Dursi, Roland, Eils, Shadrielle M, G Espiritu, Robert, S Fulton, Shengjie, Gao, Josep L, L Gelpi, Mark, B Gerstein, Santiago, Gonzalez, Ivo, G Gut, Faraz, Hach, Michael, C Heinold, Jonathan, Hinton, Taobo, Hu, Vincent, Huang, Huang, Yi, Barbara, Hutter, David, R Jones, Jongsun, Jung, Natalie, Jäger, Hyung-Lae, Kim, Kortine, Kleinheinz, Sushant, Kumar, Yogesh, Kumar, Christopher, M Lalansingh, Ivica, Letunic, Dimitri, Livitz, Eric, Z Ma, Yosef, E Maruvka, R Jay Mashl, Andrew, Menzies, Ana, Milovanovic, Morten Muhlig Nielsen, Stephan, Ossowski, Nagarajan, Paramasivam, Jakob Skou Pedersen, Marc, D Perry, Montserrat, Puiggròs, Keiran, M Raine, Esther, Rheinbay, Romina, Royo, S Cenk Sahinalp, Iman, Sarrafi, Matthias, Schlesner, Jared, T Simpson, Lucy, Stebbings, Miranda, D Stobbe, Jon, W Teague, Grace, Tiao, David, Torrents, Jeremiah, A Wala, Jiayin, Wang, Sebastian, M Waszak, Joachim, Weischenfeldt, Michael, C Wendl, Johannes, Werner, 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Publikováno v: Nature Communications, 11(1):4748. Nature Publishing Group
Nature communications, 11(1):4748. Nature Publishing Group
Nature communications, 11 (1
NATURE COMMUNICATIONS
Nature Communications, 11 (1)
Nature Communications, Vol 11, Iss 1, Pp 1-27 (2020)
Bailey, M H, Meyerson, W U, Dursi, L J, Wang, L B, Dong, G, Liang, W W, Weerasinghe, A, Li, S, Kelso, S, Akbani, R, Anur, P, Bailey, M H, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ding, L, Weischenfeldt, J, Brunak, S, Ding, L, Favero, F, MC3 Working Group, PCAWG novel somatic mutation calling methods working group & PCAWG Consortium 2020, ' Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples ', Nature Communications, vol. 11, no. 1, 4748 . https://doi.org/10.1038/s41467-020-18151-y
Bailey, Matthew H; Meyerson, William U; Dursi, Lewis Jonathan; Wang, Liang-Bo; Dong, Guanlan; Liang, Wen-Wei; Weerasinghe, Amila; Li, Shantao; Kelso, Sean; Saksena, Gordon; Ellrott, Kyle; Wendl, Michael C; Wheeler, David A; Getz, Gad; Simpson, Jared T; Gerstein, Mark B; Ding, Li (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications, 11(1), p. 4748. Springer Nature 10.1038/s41467-020-18151-y
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Nature Communications, 11
RUO: Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)
Bailey, M H, Meyerson, W U, Dursi, L J, Wang, L B, Dong, G, Liang, W W, Weerasinghe, A, Li, S, Kelso, S, Akbani, R, Anur, P, Bailey, M H, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ding, L, MC3 Working Group, PCAWG novel somatic mutation calling methods working group & PCAWG Consortium 2020, ' Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples ', Nature Communications, vol. 11, no. 1, 4748 . https://doi.org/10.1038/s41467-020-18151-y
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

MC3 Working Group: Rehan Akbani21, Pavana Anur22, Matthew H. Bailey1,2,3, Alex Buchanan9, Kami Chiotti9, Kyle Covington12,23, Allison Creason9, Li Ding1,2,3,20, Kyle Ellrott9, Yu Fan21, Steven Foltz1,2, Gad Getz8,14,15,16, Walker Hale12, David Haussl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79caf69aa08507159a37977adcb4937b
https://www.bib.irb.hr/1104730

A Mutation in

Autor: Yonggoo, Kim, Hye Jin, You, Shin Hae, Park, Man Soo, Kim, Hyojin, Chae, Joonhong, Park, Dong Wook, Jekarl, Jiyeon, Kim, Ahlm, Kwon, Hayoung, Choi, Yeojae, Kim, A Rome, Paek, Ahwon, Lee, Jung Min, Kim, Seon Young, Park, Yonghwan, Kim, Keehyoung, Joo, Jongsun, Jung, So-Hyang, Chung, Jee Won, Mok, Myungshin, Kim

Publikováno v: Journal of Clinical Medicine

Corneal dystrophies (CDs) are a diverse group of inherited disorders with a heterogeneous genetic background. Here, we report the identification of a novel ZNF143 heterozygous missense mutation in three individuals of the same family with clinical an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::221455f54054b6c91e717cfc101c5c50
https://pubmed.ncbi.nlm.nih.gov/31390831